PDF - Multiple Sclerosis Society

Issue
voice
33
Mar 2011
Genetics,
Origins &
History
DL Newman
History of MS
DL Newman winner Graeme
Thompson shares his story
A brief history of the development
of medical understanding
Research News
Pregnancy & MS
MSNZ selected as the official charity for
three Contact TriWoman events
How does MS affect pregnancy? Is
MS inherited and can this risk be
reduced?
MS Voice
Introducing
Issue 32 March 2011
Contents
5 Crock’s Chronicle
Melanie tells us why for better
or worse it is all up to us
6 Regional Voices
Features
Latest local news and events
8 Research
A selection of recent research
into emerging treatments and
therapies
Research News
Latest research into
treatments and therapies
Assisting patients
administer their
AVONEX injection
AVONEX ALLIANCE is a free support
program to assist MS patients with
AVONEX therapy.
10 Stem Cells
Understanding stem cell
therapies and developing
research
16 Dine@Mates Rates
A new fundraising project
coming soon
AVOJECT IM is available by calling the AVONEX ALLIANCE
and can only be used with pre-filled syringes.
Medicines have benefits and some may have risks. Ask your doctor if Avonex is right for you.
AVONEX is a Prescription Medicine that is reimbursed for those patients who meet the special authority criteria in The Pharmaceutical Schedule
Stem Cells
Current research and
understanding of stem cells
19 Genetics & MS
The origins and genetics of
MS
24 My Life & MS
DL Newman winner Graeme
Thompson shares his story
26 History of MS
A brief history of the origin
of MS and the development of
medical understanding
Reference: 1. AVONEX® Approved Product Information. 2. Betaferon® Approved Product Information. 3. TYSABRI® Approved Product Information. 4. Copaxone®
Approved Product Information.
30 Pregnancy & MS
How does MS affect
pregnancy? Is MS inherited
and can this risk be reduced?
© 2010 BI NZ
Biogen Idec and AVONEX are registered trademarks of Biogen Idec MA Inc.
Betaferon is a registered trademark of Bayer Schering Pharma Aktiengesellschaft.
Copaxone is a registered trademark of TEVA Pharmaceuticals Industries Ltd.
TYSABRI is a registered trademark of Elan Pharma International Ltd.
™AVOJECT IM is a trademark of Union Medico ApS.
2010/3/AV - NZ -0001 • B1379/4/10
Taps No. PP9009
AVONEX the only once weekly MS therapy 1–4
Genetics & MS
Understanding the genetic
component to MS
National Director
Rosie Gallagher
 Crock’s Chronicles
Melanie Trevethick tells us why
For Better or Worse, It’s Up To You
Multiple Sclerosis Society
of New Zealand
PO Box 2627,
Wellington, 6140
NEW ZEALAND
Phone: 0800 MS LINE
(0800 675 463) or
+64 4 499 4677
[email protected]
www.msnz.org.nz
www.facebook/mssnz
The MS Voice Magazine
is produced, written and
designed and edited by
Daniel Melbye.
[email protected]
Disclaimer: Information and
articles contained in MS Voice
are intended to provide useful
and accurate information of a
general nature for the reader
but are not intended to be a
substitute for legal or medical
advice. Multiple Sclerosis
Society of New Zealand Inc is
not recommending medical or
legal advice and readers must
seek their own medical or legal
advice as may be appropriate.
W
elcome to the
first Voice issue
of 2011. 2010 was a year
of vision and change for
MSNZ and we intend on
building on and developing
those changes throughout
this year.
A major change you
will notice coming from
National Office is that of
expanding our fundraising
initiatives. This year, we
are embarking on a number
of innovative fundraising
events, to enable us to
increase and better the
services we provide,
without impacting on our
already generous donors
and sponsors.
You may already have
seen that we were
partnered with the Contact
TriWoman Triathlon in
Hamilton, Palmerston
North and Wellington and
what we have lined up for
the rest of the year has me
quite excited!
Inside, you’ll find
information about our
next fundraiser – “Dine
@ Mate’s Rates” – which
is a neat little concept,
incredibly easy to do - and
to encourage others to
partake in also. Ever have
friends over for dinner?
Then this could pop the
‘fun in fundraiser’ for you
and your mates! Check out
page 16 for details.
Each time I sit down to write another
and I liked her immediately. It turned
our lives. To me nothing could be
Crock’s Chronicle I’m reminded
out she was only three years older
worse.
just how many different shades
than me which certainly hit home
there are of MS and how varied
given her prognosis. It seemed
our lives and needs are as a result.
so unfair that someone with such
Inevitably we see advertisements for
spirit and eyes full of life should be
equipment for those with the more
reduced to this.
optional!) For those intent on taking
Meeting Jenny was certainly a
effect, a daily regime could include
reminder to me that we with MS
any combination of the following:
MSNZ are currently
recruiting volunteers to
help with fundraising. This
might include helping in
the office, being part of an
event committee – or, if
you have particular skills,
such as marketing, media,
design, etc – we could
utilise them to make our
2011 events all the more
spectacular! Please email
[email protected] or call
0800 MS LINE if you want
to take part.
advanced stage of the condition but
Sadly, I’d also like to
take this opportunity to
send our condolences to
the family and friends of
Bev Wilson-Jones, our
“2006 PwMS of the Year”,
who passed away earlier
this year. Bev was a true
inspiration, developing her
own line of ‘wheelchairfriendly’ clothing and
proving that disability is no
barrier to success.
What a perfect way to describe our
I’m also heartened to read that new
drugs are offering hope to the newly
diagnosed, preventing that disability
occurring. These are exciting
times for science and they will
only get better in the years ahead.
Regardless though of our individual
state of health, what does define us
have much to be grateful for. While
some of us may not have the
mobility or other functioning we
would have wished for in our lives
it is so important to remember that
MS is not a death sentence. Unlike
Forgive me for taking the Mickey
but having MS is definitely a fulltime career option. (If only it was
every opportunity to minimise its
• ignore the diagnosis completely
and just get on with your life as it’s
always been
• restrict knowledge that you have it
to a needs-to-know basis
• undertake the daily preparation
is our approach to life.
Jenny’s stage of her disease, MS
In the previous MS Voice there was
remain thankful for the good things.
the foods loved by the rest of the
I like to think of myself as a positive
• for those eligible, inject a beta
person because to be honest
interferon to prevent relapses and
I’ve never seen the point in being
deterioration
anything else. From what some
• swallow handfuls of prescription
may describe as looking for the
pills for its symptoms
bright side in a nuclear holocaust,
• buy vitamins such as D and
(excuse the obvious), even the
omega 3 to make up for what our
process of being diagnosed with MS
environment doesn’t provide
can be positive. Despite many of
• attend gym class to strengthen
us experiencing strange symptoms
weakening muscles
over a period of years that are only
• attend physiotherapy appointments
fan.
later identified as neurological in
to undo the knotted muscles
origin, most PwMS always held
straining to hold us together
I met a lady (Jenny) last week
firm to their self-belief that there
• and most of all regret yet again
when my daughter was in hospital,
had indeed been ‘something up.’
why we didn’t take out that gold-
a fellow inpatient on the ward.
This faith in ourselves is the most
plated income protection insurance
Emaciated, she sat in institutional
precious gift we possess. When
while we had the chance
‘Til next time,
pyjamas, a morphine pump lying
we fail to follow our inner voice or
in her lap like a necessary but
choose to ignore it for whatever
Rosie Gallagher
unwanted friend. We got to talking
reason we give up ownership over
an article about the Outward Bound
experience and in it an instructor’s
quote “you can be cold, wet and
miserable or just cold and wet.”
choices around attitudes to life!
While some wallow in the emotion
of whatever they are experiencing,
others just get on with it and face
and overcome the problems. It’s
certainly a slogan we could all do
with remembering when life hits the
is more a way of life so let’s always
of a special diet devoid of many of
population
Oh well, some things we can
change, the past we cannot. It’s
back to the future all over again.
ms. voice
March 2011
Page 5
Regional
Voice
DLN winner
Carole Thomson
Local News & Events
Fundraising for MS !!
Cripin Place by David Ashton
H
i. My name is
Carole Thomson. I’m
from Christchurch and am
married to a wonderful
man, Alan. We have 3
darling children - Emma
6, Joel 4 and Caitlyn 3,
to whom I’m a full time
mum. I was diagnosed
with MS nearly 6 years ago
and naturally, it changed
my life. I have always had
a desire to help people
but since my diagnosis
I have been particularly
interested in helping
people to understand MS.
This year I have been
awarded The Dorothy
L Newman scholarship
which will enable me to
begin achieving this. The
funding will allow me to
attend a pre-health course
this year in preparation
for starting a nursing
degree next year. My long
term goal is to not only
be able to help others on a
practical level but to also
use my nursing training
and personal experiences
to help others with MS
while also helping the
wider community to
understand the practical
and emotional aspects of
life with MS.
Page 6
ms. voice
March 2011
existence.....”
David was diagnosed
inconsistencies of state
with MS in 1982 and has
funded care and oft times
compassionless bureaucracy. been an active part of the
community since then,
Former president
including volunteering for
of the North Shore
MS Societies in NZ and
Multiple Sclerosis Society,
Florida as well as various
David Ashton, has written a disability groups. He was
powerfully moving but good named Person with MS of
humoured autobiographical the Year in 2002.
book about living with the
Christina Treneary,
debilitating disease.
disability advocate,
“I have told my story
describes the book as “A
honestly, and held nothing
gripping and roller-coaster
back, in the hope that my
read, which will leave
experiences will encourage you outraged, humbled,
other dependent people to
overwhelmed, angered,
live up to their maximum
nourished and inspired in
ability and not feel obligated turn, sometimes of the same
to accept a mediocre
page.”
A
D
C
hristine O’Sullivan
with her husband
Martin opposite Te Papa in
Wellington where a billboard
showing her participating in
the TriWoman triathlon event
was being advertised.
triathlon to raise money and
awareness of our cause. So far
well over $1000.00 has been
raised from sponsorship by
taking part in the triathlon in
Wellington.
Other wonderful people taking
part are Susan Wall, Fran
She was diagnosed with MS in Williams, Tessa Johnstone,
2005 and describes her journey Charlotte Hathaway, Fiona
Mckay, Carol Hogan, Jo’ann
since then as “working out
Watson, Gayle Crozier, Tania
what is important and what
Lala, Charlotte Bolwell,
changes I needed to make in
Carolyn Soane.
my life to stay happy, healthy
and fit.”
Christine was integral in the
decision for the MS Society
to be selected as the official
charity for the event .
She joined teams across
wellington taking part in the
avid’s life story if
not for the faint
hearted, feeble minded
or humourless. This is
an expose on how life is
for persons living with
MS, dependent on the
vagaries and mindless
Excerpt from Cripin Place
As I started onto
the downhill sloping road
surface, I instinctively knew
I was going to topple. With
startling clarity, and in
ever-so-slow motion, the
scooter tipped sideways
onto the unforgiving chipsealed surface with me
clamped onto the steering
tiller. Suddenly life returned
to real time, and the clatter
of plastic and steel aginst
the road surface jarred in
my ears. I found myself
sprawled facedown and
immobile on the road.
My ears then detected
another sound: a rapidly
approaching vehicle. Oh
great, I was about to be run
over.
The car stopped nearby and
I heard a door open, then
slam shut, followed by the
tippy-tap-tap of stiletto
heels on stone.
A female voice asked, “Are
you alright? Whatever
happened to you?”
Oh boy, an excess of
intelligence here, I thought
unkindly to myself as I
lay face down, closely
inspecting the life of minute
critters between the stone
chips. When I looked up
from this manoeuvre I
was being straddled by a
petite, mini-skirted fortysomething local resident,
and it was no surprise to
me that she had arrived
on the scene in a shiny
BMW - what else in affluent
Takapuna?
Cripin Place (published by Mackey Books) RRP$29.90. To order email [email protected]
ms. voice
March 2011
Page 7
Research
News
Research News
Specific Immune
Cells Shown
to Reduce
Inflammation
Augmentation of regulatory
B cell activity in experimental
allergic encephalomyelitis by
glatiramer acetate. Journal of
Neuroimmunology.
Genetics increasing susceptibility of
women to MS
Neurology: American Academy of Neurology Journal
A
recent study
shows that genetic
causes are responsible for
the greater incidence of
multiple sclerosis in women
than in men.
In this study, led by Prof
George Ebers, a group
of researchers from the
University of Oxford
studied the genes of over
1000 families, where at
least one person had MS. In
total, genes of 7093 people
were examined, of which
2127 individuals had MS.
Researchers discovered
that women with MS were
1.4 times more likely to
have the Human Leukocyte
Antigen (HLA) gene
variant associated with
MS than men with the
disease. As well as this
increased prevalence there
is a maternal ‘parent-of-
Page 8
ms. voice
March 2011
origin effect’ with higher
numbers of affected
mother-daughter pairs
and fewer father-son pairs.
Findings have also shown
that women with the HLA
gene variant are more
likely to transmit the gene
variant to other women
in their families than to
men. However, the increase
in MS among women
happened too quickly to
attribute causes simply to
genetic factors suggesting
the environment is also
responsible for altering
genes.
They also found that an
individual’s risk of carrying
the gene variant and
further developing MS
is increased if a seconddegree relative also carried
the gene variant and had
MS rather than if a parent
did.
R
esearch from
the Multiple Sclerosis
Centre at Dartmouth
College, Hanover, showed
that a specific type of
immune cell reduces
inflammation in the brain
and spinal cord in mice
with a MS-like disease
called experimental allergic
encephalomyelitis (EAE).
Specifically, these immune
cells (referred to as CD5/
CD19+ B cells) protect
against EAE severity. In
addition, treating with
glatiramer acetate (GA, a
therapeutic better known
as Copaxone for relapsing
multiple sclerosis),
amplifies this effect. The
transfer of GA-conditioned
immune cells leads to
increased production
of immunoregulatory
molecules and reduced
inflammation, as well as
increasing the levels of
another specific molecule
called Brain Derived
Neurotrophic Factor
(BDNF).
Epstein-Barr Virus
(EBV) plays a role in the
development of MS
The Neuroscientist
A
(2) EBV causes MS in genetically
susceptible individuals by infecting
specific immune cells called B cells that
have become ‘autoreactive’ this means
they start to waywardly attack the
person’s own cells. In turn, these B cells
produce inflammatory molecules and
survival signals for autoreactive T cells
(another type of immune cell) that would
otherwise die through natural processes;
ustralian Researcher,
Professor Michael Pender proposes
how EBV plays a significant role in the
development of MS. There is increasing
evidence that infection with the Epstein(3) the susceptibility to develop MS after
Barr Virus (EBV)
EBV infection is dependent
plays a role in the
on a genetically determined
EBV infection is
development of MS.
deficiency of the specific
essential for the
immune cells called ‘CD8+ T
Based at the
development of MS cells’ that normally keep EBV
University of
infection under tight control;
Queensland and made possible by MS
Research Australia, Prof Pender has
(4) sunlight and vitamin D protect against
recently published in the journal, The
MS by increasing the number of CD8+ T
Neuroscientist, his four –step hypothesis
cells available to control EBV infection.
as to the role of EBV in MS:
The hypothesis makes predictions that can
(1) EBV infection is essential for the
be tested, including the prevention and
development of MS;
successful treatment of MS by controlling
EBV infection.
Plasma exchange as a secondary treatment for severe
flares in relapsing forms of MS
U
sing plasma
exchange to treat
people with severe relapses
in multiple sclerosis (MS)
and related diseases, as
well as those with certain
kinds of nerve disorders
known as neuropathies is
being recommended in a
new guideline from the
American Academy of
Neurology.
Plasma exchange, formally
known as plasmapheresis,
is the process of taking
blood out of the body,
removing constituents
in the blood’s plasma
thought to be harmful, and
then transfusing the rest
of the blood (mainly red
blood cells) mixed with
replacement plasma back
into the body.
The guideline recommends
doctors consider using
plasma exchange as a
secondary treatment for
severe flares in relapsing
forms of MS and related
diseases. The treatment was
not found to be effective for
secondary progressive and
chronic progressive forms
of MS.
ms. voice
March 2011
Page 9
body or what stage in development they
come from.
Haematopoietic Stem
Cells
M
any adult tissues contain
haematopoietic stem cells (HSCs)
that can replace cells that die or restore
tissue after injury. Skin, muscle, intestine
and bone marrow, for example, each
contain their own stem cells. In the bone
marrow, billions of new blood cells are
made every day from blood-forming stem
cells.
Stem Cell
Research in MS
What are Stem Cells?
T
he body is made up of about
200 different kinds of specialised
cells such as muscle cells, nerve cells, fat
cells and skin cells. All specialised cells
originate from stem cells. A stem cell is a
cell that is not yet specialised. The process
of specialisation is called differentiation
and once the differentiation pathway of
a stem cell has been decided, it can no
longer become another type of cell.
Stem cells are found in the early embryo,
the foetus, amniotic fluid, the placenta
and umbilical cord blood. After birth and
for the rest of life, stem cells continue to
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ms. voice
March 2011
reside in many sites of the body, including
the skin, hair follicles, bone marrow and
blood, brain and spinal cord, the lining
of the nose, gut, lung, joint fluid, muscle,
fat, and menstrual blood, to name a few.
In the growing body, stem cells are
responsible for generating new tissues and
once growth is complete, stem cells are
responsible for repair and regeneration of
damaged and ageing tissues.
Types of Stem Cells
M
any different terms are
used to describe various types of
stem cells, often based on where in the
Adult stem cells are tissue-specific,
meaning they are found in a given tissue
in our bodies and generate the mature
cell types within that particular tissue or
organ. It is not clear whether all organs,
such as the heart, contain stem cells. The
term ‘adult stem cells’ is often used very
broadly and may include fetal and cord
blood stem cells.
including bone marrow, skin and fat tissue.
Under normal circumstances they turn
into bone cells, fat cells and cartilage cells.
However under experimental conditions
they have also been shown to have other
effects. For example when mesenchymal
stem cells are injected intravenously into
mice with experimental autoimmune
encephalomyelitis (EAE), an animal model
of MS, they lessen the inflammatory
process. How these cells achieve this is not
yet clear but it seems likely to be due to
some immune modifying function of the
cells. It is still unclear whether the ability
of these stem cells to reduce inflammation
will be better than that of established
treatments however clinical trials appear
likely within the next year. Whether
Mesenchymal stem cells can be made to
differentiate into cells that can replace cells
in the nervous system remains uncertain
but at this stage seems unlikely.
Neural Stem Cells
T
There are a few stem cell therapies
that are widely accepted by the medical
community and these use tissue-specific
stem cells. These are bone marrow or
cord blood stem cell transplantation
to treat diseases and conditions of the
blood or to restore the blood system after
treatment for specific cancers, skin stem
cell therapies for burns and limbal stem
cells for corneal replacement. In each case,
the stem cells repair the same tissue from
which they came.
hese are the cells responsible
for repairing myelin in the brain, but
when someone has MS, their NSCs don’t
seem to function properly – they don’t
‘turn on’ to repair the damage that has
occurred.
Mesenchymal Stem
Fetal Stem Cells
A
Cells
A
nother type of adult stem cell is the
mesenchymal stem cell (MSCs).
These are found in a number of tissues,
There are two approaches that might be
able to correct this. One is to give drugs
that make the NSCs already present work
more effectively. The other is to transplant
new cells that will repair the damage that
the resident brain stem cells cannot.
s their name suggests, fetal
stem cells are taken from the fetus.
The developing baby is referred to as a
fetus from approximately 10 weeks of
ms. voice
March 2011
Page 11
gestation. Most tissues in a fetus contain
stem cells that drive the rapid growth and
development of the organs. Like adult stem
cells, fetal stem cells are generally tissuespecific, and generate the mature cell types
within the particular tissue or organ in
which they are found.
Cord Blood Stem Cells
A
t birth the blood in the
umbilical cord is rich in bloodforming stem cells. The applications of
cord blood are similar to those of adult
bone marrow and are currently used
to treat diseases and conditions of the
blood or to restore the blood system after
treatment for specific cancers. Like the
stem cells in adult bone marrow, cord
blood stem cells are tissue-specific.
Embryonic Stem Cells
E
mbryonic stem cells originate
from very early embryos and can in
theory give rise to all cell types in the
body (pluripotent). The embryo enters the
Blastocyst stage of development 5-7 days
after the fertilisation of the egg. ESC’s are
derived from the inner cell mass of the
blastocyst.
Embryonic stem cells are still a
controversial and uncertain area of
research due to the ethical issues
surrounding the use of these types of
stem cell, and significant religious or
cultural concerns relating to the potential
“destruction” of life. In addition to ethical
questions surrounding the use of embryos
to derive stem cells, there are also a
number of technical problems which will
need to be overcome if these cells are to be
used in human therapies.
Furthermore, embryonic stem cells carry
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ms. voice
March 2011
the risk of transforming into cancerous
tissue after transplantation. To be used
in cell transplant treatments the cells
will most likely need to be directed
into a more mature cell type, both to be
therapeutically effective and to minimize
risk that cancers develop. While these cells
are already helping us better understand
diseases and hold enormous promise for
future therapies, there are currently no
treatments using embryonic stem cells
accepted by the medical community.
Induced Pluripotent
Stem Cells (iPS cells)
I
n 2006, scientists discovered
how to “reprogram” cells with a
specialized function (for example, skin
cells) in the laboratory, so that they
behave like an embryonic stem cell. These
cells, called induced pluripotent cells or
iPS cells, are created by inducing the
specialized cells to express genes that are
normally made in embryonic stem cells
and that control how the cell functions.
Embryonic stem cells and iPS cells
share many characteristics, including the
ability become the cells of all organs and
tissues, but they are not identical and can
sometimes behave slightly differently. IPS
cells are a powerful method for creating
patient- and disease-specific cell lines
for research. However, the techniques
used to make them need to be carefully
refined before they can be used to generate
iPS cells suitable for safe and effective
therapies.
Stem Cell Treatments
S
tem cell-based therapies
(often called regenerative medicine)
is defined as any treatment which targets
stem cells to repair or replace tissues or
cells damaged by injuries or diseases and
to treat chronic diseases, such as diabetes,
Parkinson’s, heart failure, stroke and spinal
cord injuries, as well as Multiple Sclerosis.
It is envisages that stem cell therapies may
also be used to prevent damage happening
in the first place.
Neuroprotective therapies, which aim to
protect the nerve fibres of myelin sheath,
are the main focus of potential stem cell
treatments for MS. These would most
likely entail preventing immune damage to
the nervous system (immunomodulation),
or repairing the damaged myelin sheath
(remyelination).
Neural stem cells (NSC’s) are perhaps
the most promising area of research
into Stem Cell treatments for MS. The
most studied type of NSC and the one
of particular relevance to MS is the
Oligodendrocyte precursor cell (OPC).
The OPC is the cell which gives rise to
myelin. Much of the research with respect
to OPC’s comes from groups working
on spinal cord repair following traumatic
spinal cord injury, though this area of
research could also benefit people with
MS. Studies in experimental mice showed
when OPC’s are transplanted directly into
areas of demyelination they promoted
remyelination.
Unfortunately some of the early promise
has been tempered by the fact that whilst
these stem cells migrate to areas of
inflammation and support remyelination in
rodents they appear unable to survive and
migrate in human brain tissue.
Future use of these stem cells in MS
will require a better understanding of
the human pathways that control how
cells migrate and produce myelin. One
exciting advance with respect to our
understanding of these pathways has
recently been published by scientists from
Cambridge and Edinburgh University in
Nature Neuroscience (December 2010).
The scientists found a way to activate the
“RXR pathway”, a crucial cell development
route that turns brain and spinal cord
stem cells into myelin-making cells, in
rats and mice. If the same pathway could
be switched on by drugs in humans, the
cells could regenerate the damaged myelin
sheaths around the nerve fibres of MS
patients.
Prof Charles ffrench-Constant, a medical
neurologist at the University of Edinburgh
and co-author of the research paper, said:
“The aim of our research is to slow the
progression of multiple sclerosis with the
eventual aim of stopping and reversing it.
This discovery is very exciting as it could
potentially pave the way to find drugs that
could help repair damage caused to the
important layers that protect nerve cells in
the brain.”
Franklin said there could be preliminary
trials of potential drugs within five years
and treatments within 15 years. “The
caveat is that the road from where we are
to a treatment is unpredictable, but at least
we now have a road to go down.”
ms. voice
March 2011
Page 13
Conclusion
S
tem Cells have generated a
lot of excitement because the potential
therapeutic benefits are so vast. There
is real hope that stem cell transplants
may assist in remyelination and may help
protect the nervous system from immune
attacks.
therapies.
3
Stem cell treatments should only be
done in established centres that strictly
adhere to the International Society for
Stem Cell research guidelines and should
be done in the context of a clinical trial
where benefits can be measured and
patients closely monitored for adverse
outcomes.
Unfortunately this interest has also
generated unsubstantiated reports of stem
cell transplantation “curing or improving”
a wide variety of neurological conditions.
Unfortunately the details around many of
these claims have rarely been subjected
to scientific scrutiny and most, when
subjected to such scrutiny have been found
wanting.
References
At this stage the ability for stem cell
transplantation to replace damaged cells,
particularly axons, within the nervous
system appears some way off. The majority
of therapies are at a very early stage of
development, and in most cases a number
of scientific and technical hurdles need to
be resolved before clinical application can
progress.
Neural stem cells for myelin repair in MS
Gianvito Martino MD, Department of
Neurology and Neurophysiology, San
Raffaele Scientific Institute, Milan, Italy
Recommendations
B
ased on a recent review of
the most current information available
on Stem Cells the Stem Cell in Multiple
Sclerosis Consensus Group (STEMS)
group has published a paper with the
following recommendations;
1
Exploratory trials using MSC’s
and NPC’s to treat patients with
early secondary progressive MS that is
refractory to conventional treatments
should now be considered.
2
Page 14
Relapsing/remitting disease should
continue to be treated with conventional
ms. voice
March 2011
Mesenchymal stem cells: promises
and reality Antonio Uccelli, MD,
Neuroimmunology Unit, Department
of Neurosciences, Ophthalmology and
Genetics, University of Genoa, Genoa,
Italy
The Quest to serve and
accommodate personal needs.
Retinoid X receptor gamma signaling
accelerates CNS remyelination
Pierre Chambon,Charles ffrenchConstant& Robin J M Franklin
Nature Neuroscience Volume:14, 2011
Resources
International Society for Stem Cell
Research patient handbook on stem cell
therapies:
www.isscr.org/clinical_trans/pdfs/
ISSCRPatientHandbook.pdf
Information regarding the importance of
evidence-based claims for treatments
www.senseaboutscience.org.uk/index.
php/site/project/267/
MS Research Australia
www.msaustralia.org.au/msra
Quest Serviced Apartments offers far more than just comfortable
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i
Genetics
&
Multiple
Sclerosis
The Basics of
Genetics
G
enes are codes or
messages that determine
all the features that make one
person different from another.
They work alone or in groups.
Through a complex sequence
of events these genetic codes
are converted into the proteins
from which all cells and tissues
are made.
ms
A
s such genes are the units of
heredity that collectively form a long
spiral molecule known as deoxyribonucleic
acid (DNA). Each gene occupies a specific
site called a locus on a chromosome and
each chromosome carries many genes.
In humans, it is estimated that 30,00040,000 genes are carried on different
chromosomes. The complete set of genes
is known as the human genome. Many
genes have more than two alleles. Alleles
represent different forms of a gene
(Cummings, 2003; Gelehrter, Collins, &
Ginsburg, 1998).
Genes contain information which is
used to produce proteins. Proteins are
components of all living cells: some
provide essential building materials; some
control the breakdown of energy sources
and waste products; some act as important
messengers; some recognise and destroy
bacteria and viruses; others are master
regulators that control the activity of
genes and their ability to produce other
proteins.
Susceptibility to some diseases, in
particular those that can be directly
transmitted from parent to child, occurs
when abnormal genes are copied in either
sperm or eggs, thereby leading to the
perpetuation of expression of abnormally
functioning proteins and hence, inherited
disease.
Genetics & MS
I
n the 1970s, there was a
breakthrough with the discovery of a
very strong association between MS and a
set of genes located on chromosome 6 that
control immune cell function, known as
human leukocyte antigen (HLA) genes.
The HLA genes reside within the major
histocompatibility complex (MHC), a
large genomic region or gene family
found in most vertebrates, and play an
important role in the immune system and
autoimmunity through the production of
HLA molecules.
While there is a genetic
component, MS risk is determined
by many factors involving complex
interactions between genes and the
environment
To understand how these HLA molecules
work it is important to understand that
proteins are continually being synthesised
within the cell. These proteins may
be “self,” that is, originating from the
organism itself, or they may be foreign
(“non-self ”), originating from bacteria,
viruses, pollen and so on. The HLA
molecules are anchored in cell membrane
where they take a fragment of these
proteins and display them on the cell
surface so that immune cells are able to
identify whether the protein is non-self
allowing it to target and kill the infected
cell.
The HLA system therefore determines
Page 20
ms. voice
March 2011
whether antigens belong to self or nonself. Any dysfunction in the HLA system
can therefore lead to an autoimmune
disease. Researchers have
discovered a relationship
between certain HLA alleles
and specific autoimmune
diseases, such as, MS. These
diseases are likely to result
from a combination of HLA
and non-HLA effects with
environmental activation, i.e.,
infection (Edlin, 1990).
Epidemiological findings support
a polygenic hereditary
predisposition to MS. Human
leukocyte antigen (HLA) DR2
carriership is associated with an
increased risk for MS. HLA-DR2
is one of the definite genetic
associations for MS. Sixty
percent (60%) of MS patients
in Northern Europe are DRB1 1501
(DR2 haplotype) positive compared
with 30% in healthy individuals.
Therefore, HLA-DR2 is associated with
a cluster of alleles, which have a two-fold
increased risk for developing MS. The risk
by this haplotype is small, and it is neither
necessary nor sufficient for development
of MS (DeJong et al., 2002). There is a
blood test that detects presence or absence
of HLA-DR2. But because the data is
not compelling, this test is not routinely
recommended in clinical practice.
Other factors
W
hile the major
histocompatibility complex exerts
the largest genetic contribution to MS
susceptibility, genes are not the only
factors involved determining a person’s
susceptibility to an autoimmune disease.
For example, some individuals who carry
disease-associated MHC molecules on
their cells will not develop an autoimmune
disease (Haines et al., 1996; DeJager &
Hafler, 2004). This is because while genetic
factors are important, Multiple Sclerosis
is not driven by a single cause, but instead
is influenced by many factors involving
complex interactions between genes and
the environment.
This distinguishes MS from single gene
conditions where the illness can be linked
to a single gene in which the presence or
absence of one form of the gene dictates, to
a great extent, whether or not the disease
will occur, for example Huntington’s
disease, muscular dystrophy, and sickle cell
disease.
The inherited risk of MS is likely to
involve several genes interacting with
each other and with environmental
factors. Research into the genetics of MS
therefore involves the search for genes that
contribute to susceptibility and/or to the
ms. voice
March 2011
Page21
severity and other aspects of the disease.
One environmental factor which is of
particular important in understanding
the cause of Multiple sclerosis (MS) is
the remarkable geographic distribution
inversely paralleling that of regional
ultraviolet radiation, supporting the
hypothesis that vitamin D plays a central
role in the disease etiology.
Several recent studies strengthen the
candidacy of vitamin D as a key player in
the causal cascade to MS. This includes
a newly identified gene-environment
interaction between vitamin D and the
main MS-linked HLA-DRB1*1501 allele
and evidence showing that vitamin D
levels are significantly lower in patients
with MS as compared to controls. Also, a
recent study in twins with MS supports
the notion that vitamin D levels are
under regulation by genetic variation in
the 1alpha-hydroxylase and vitamin D
receptor genes, perhaps pointing to their
importance in the disease pathogenesis.
These findings have important practical
implications for studies of disease
mechanisms and prevention. Missing
genetic risk may partly be explained by
gene-environment interactions. More
practically important is that these
observations highlight a pressing need to
determine if vitamin D supplementation
can reduce the risk of multiple sclerosis
(MS). However, the timing of action and
the tissues in which this interaction takes
place are not clear and future studies in
prospective cohorts and animal models
will be essential for deciphering the role of
vitamin D in MS.
References
Teaching in nursing: A guide for faculty.
St. Louis, Missouri: Elsevier
Saunders. Billings, D. M., &
Halstead J. A. (2005).
Page 22
ms. voice
March 2011
Invacare’s Power
Wheelchairs
Approaches to the patient with
neurogenetic disease.Neurologic clinics,
20 (3).Bird, T. D. (2002). Lifting a Life
Above Illness, Blindsided. Harper Collins
Publishers: New York.Cohen, R. (2004).
Invacare’s better understanding of Power Wheelchairs brings a
greater focus on user needs and values. When strength counts, when
manoeuvrability, traction, comfort and safety are key requirements, the
Invacare range provides choices that match every user’s lifestyle.
Human Heredity: Principles and issues
(6th ed.). Pacific Grove, CA: Thompson
Learning, Brooks/Cole. Cummings, M. R.
(2003).
Invacare offers the broadest range of drive options including front,
centre and rear-wheel drive. Invacare Wheelchairs are known for
exceptional manoeuvrability, stability and power. Award-winning
power wheelchairs highlight the Company’s unrivalled commitment to
extensive research and continuous improvement.
Gene expression profiling in MS: what
is the clinical relevance? The Lancet
Neurology, 3 (5). De Jager, P. L., & Hafler,
D. A. (2004).De Jong, B. A., Huizinga, T. W.
J., Zanelli, E., Giphart, M. J., Bollen, E. L.
E. M.,Uitdehaag, B. M. J., Polman, C. H., &
Westendorp, R. G. J. (2002).
For more information or to arrange a trial call us on 0508 468 222
www.invacare.co.nz
Evidence for additional genetic risk
indicators of relapse – onset MS within the
HLA region. Neurology, 59 (4).
Genetics of multiple sclerosis.The Lancet
Neurology, 3, 1-15. Dyment, D. A., Ebers,
G. C., & Sadovnick, A. D. (2004).
The role of genetic factors in multiple
sclerosis susceptibility. J Neuroimmunology,
54, 1-17. Ebers, G. C., & Sadovnick, A. D.
(1994).
Grilled fish and lemon with olive salad
A genetic basis for familial aggregation in
multiple sclerosis. Ebers, G. C., Sadovnick,
A. D., Risch, N. J., and the Canadian
Collaborative Study Group. (1995).
Multiple sclerosis, vitamin D, and
HLA-DRB1*15 Neurology. 2010 Jun
8;74(23):1905-10. Handunnetthi L,
Ramagopalan SV, Ebers GC.
AWARDS
2009
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Try this fish with your favourite
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100g marinated chargrilled
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1/3 bunch flat leaf parsley,
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1/2 cup pimento-stuffed green
olives, sliced
1 cup baby rocket leaves,
chopped
2 tablespoons capers, drained
and chopped
4 firm white fish fillets (approx
120g each), such as gurnard or
ling
2 lemons, cut into wedges
cooking oil spray
1/3 cup sun-dried tomato pesto
2 teaspoons olive oil
1 tablespoon red wine vinegar
Combine the capsicum, parsley,
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Heat a chargrill pan (heavy
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RECIPE from Niki Bezzant
Editor, Healthy Food Guide magazine
DL NEWMAN
My life
and MS
by Graeme Thompson
MS came as an unwelcome
gift for my 40th birthday present some
twelve years ago now. Actually it marked
its intrusion eight years earlier when I
stumbled and fell during an exercise with
the local volunteer fire brigade. Not seeing
any obvious obstacles on the ground that
day, the process of falling over repeated
itself. I did think that it may be time to
look at glasses, so went to see my GP for
whom I had done lots of work as a builder,
which was my trade. John got me to go
along to an ophthalmologist and I knew
for sure you never went to one of them for
getting glasses.
T
he specialist after much
deliberation sent me to a neurologist
who immediately told me of MS. I
knew very little of the disease in those
days admittedly, but the diagnosis was
confirmed with an MRI after the initial
Page 24
ms. voice
March 2011
detection of optic neuritis. After Angela
(my wife) and I got used to the idea of
having a chronic illness to deal with, we
did our level best to reorganise our lives
and lifestyle to meet this new challenge
“
The crunch came at age forty
when it became clear that I had
to change tack somehow, but to leap
in which direction?
”
and also to continue raising our two
young children. I in fact had the reaction
of taking no notice and just carrying on
as my symptoms didn’t stop me in my
trade at that point. The crunch came at
age forty when it became clear that I had
to change tack somehow, but to leap in
which direction? Two things saved my/
our bacon in those years. First was the
unwavering love and support of my wife
and family. Second was my accountant who
had nagged me to take out an insurance
policy for loss of income due to sickness.
I, like most guys I know resented paying
the premiums hugely but we would have
been up it without a paddle if not for the
accountant’s persistent nags.
I
had always wanted to return
to University to complete a degree
I began at age 18, but never did. Also
I had gone to the US in 2008 to go to
Speedweek on the Bonneville salt flats in
Utah to watch a mate of ours try to crack
Bert Munro’s record which he eventually
achieved in 2010. There was something
that said during that trip to go home and
re-enter your education and so I have done
that and was able to cross-credit the papers
earned all those years ago. I now find
myself in my third year of completing my
BA, with a major in History and a minor in
Politics.
W
hat of my unwelcome
gift I mentioned earlier? It has
remained mercifully stable. I have kept a
good level of strength and fitness through
our local Gym and have needed the mental
stimulation of the academic world to
maintain that balance. I have a lot to be
grateful for, such as my family without
whom this would not have been possible,
I am thankful to the MS Society and
particularly to The D.L.Newman trust for
granting me five hundred dollars which
has gone a long way towards covering a
lot of the academic texts required. There
is usually a silver lining in most clouds if
you are willing to look, has been the lesson
I have gleaned over the last twenty years.
It may have been that I would not have
entered into something as fulfilling if not
for the advent of MS.
ms. voice
March 2011
Page 25
Jean-Martin Charcot delivering a lecture on Multiple Sclerosis.
Picture supplied by Wellcome Library, London
History
of
Multiple
Sclerosis
The Discovery
of MS
I
was used for people with
progressive paralysis. As
medical knowledge of
illness developed so did the
classification of illnesses
become more defined.
Before MS had been
defined such people were
said to be ill, but with
palsy, or a paralysis. By the
18th Century physicians
began to classify illnesses
into broader groups so
that the term paraplegia
In 1824, a young man
in France called Charles
Prosper Ollivier d’Angers
published a 400 page
book on disorders of the
spinal cord that caused
paraplegia. While the
publication drew little
attention from clinicians
at the time, by combining
these pathological findings
with clinical findings of
the patient, they were able
differentiate and classify
forms of neurological
disease, such as multiple
n earlier centuries, before
Multiple Sclerosis had
been discovered, physicians
documented cases of
patients with symptoms
of a slowly increasing
paralysis, with episodes of
numbness, blurred vision,
dizziness and decreasing
mobility.
Page 26
ms. voice
March 2011
sclerosis, which had
previously been lumped
together.
In 1868, Jean-Martin
Charcot, a professor
of neurology at the
University of Paris who
has been called “the father
of neurology,” carefully
examined a young
woman with a tremor
of a sort he had never
seen before. He noted
her other neurological
problems including slurred
speech and abnormal eye
movements, and compared
them to other patients he
had seen. When she died,
he examined her brain and
found the characteristic
scars or “plaques” of MS,
which he called sclerose en
plaque disseminee.
Dr. Charcot wrote a
complete description of the
disease and the changes in
the brain that accompany
it which he delivered in a
series of lectures. While
Charcot is often credited
with the “discovery” of MS,
he was taking one further
step in a process of defining
a disease that had begun in
the previous century.
Case Studies
A
s with other diseases
Multiple Sclerosis was
probably always there, but
was only recognised once
it had been identified and
framed as a specific disease.
The Virgin Lidwina is
believed by many to have
been the first documented
case of MS. Lidwina was
born on April 18, 1380 in
Schiedam, Holland, the
daughter of a laborer, and
one of nine children. She
was healthy and active as
a child and teenager, but
in the winter of 1395-96
developed the first stages
of an acute illness. While
occasionally showing
signs of improvement,
her condition grew
progressively worse. She
suffered from pain, visual
problems, weakness and
experienced difficulty
swallowing. She became
increasingly immobile,
developing paralysis in
her right arm until she
was unable to walk. Her
condition worsened until
her death in April 14, 1933.
While this illness described
many of the features of
MS, this diagnosis remains
uncertain. Her pious
acceptance of suffering
gained public attention
and a mythology had
surrounded her. This
was supported by the
visions, supernatural visits
and ecstasies which she
began experiencing from
1407. Enthusiastic and
exaggerated reports by
those who revered her
saintliness bring into
ms. voice
March 2011
Page 27
Left to Right: Jean-Martin Charcot, Charles Prosper, Painting of Charcot at Salpetriere by Luis
Jimenez y Aranda, Sir Augustus d’Este. Pictures supplied by Wellcome Library, London
question the reliability of
the evidence making the
diagnosis of her illness
difficult.
There is however little
doubt that the relapsing
and remitting neurological
symptoms described by
Augustus d’Este (17941848) were caused by
MS. His disorder was
documented in his diary
between 1822 and 1848
and in an almanac of 18471848.
In one diary entry he
writes that “a new disease
began to show itself: every
day I found gradually (by
slow degrees) my strength
leaving me.”
The diaries describe a
recurrent and remitting
neurological disease
characterised by visual
loss, double vision, sensory
Page 28
ms. voice
March 2011
change, bladder problems
and intermittent and
progressive paralysis in his
legs. This characteristic
picture of MS is described
with enough detail to make
a conclusive diagnosis of
MS.
The first case of MS
reported in the medical
literature was documented
in a monograph by Charles
prosper Ollivier d’Angers
in Maladies de la moelle
epiniere at a time when
clinical neurological
examination scarcely
existed. Without the aid of
a microscope he produced
this major work on the
anatomy, physiology, and
pathology of the spinal
cord. It contained an
impressive review of a
number of diseases of the
cord, Within this treatise
on the spinal cord there
was a case of unmistakable
relapsing-remitting MS.
a living patient
A Chronology
of Events in the
History of MS
1855 Ludwig Turck
1380 St. Lidwina of
publishes a book of
illustrated sections of
the spinal could with the
earliest illustration of
demyelination
Schiedam, Holland born.
First suspected case of MS
documented
1677 Antoni van
Leeywenhoek observed the
myelin sheath on nerves
1794 Birth of Augustus
d’Este, grandson of King
George the III. The first
reliable account of Multiple
Sclerosis
1824 First description of
a case resembling MS by
Charles Propser Ollivier
d’Angers
1849 Friedrich Theodore
von Frerichs made first
clinical diagnosis of MS in
describes the pathology of
MS
1864 Carl Frommann
1868 First correlation of
MS clinical symptoms with
central nervous system
pathology; disease named
“Sclerose en plaques” by
Jean Martin Charcot
1928 Discovery that
myelin is produced by
oligodendrocyte glial cells
1933 Acute experimental
allergic encephalomyelitis
(EAE) developed as model
for MS
1936 Discovery that
lymphocytes are involved
in immune function
patients
1943 First detailed
description of the
composition of myelin
monoclonal antibodies
to identify specific
T-lymphocyte sub-types
1954-1955 First
1981 First use of MRI
well defined MS
diagnostic criteria
(clinical and laboratory)
and development of
quantitative disability
scoring techniques
1963 First understanding
of familial susceptibility to
MS
1970 Completion of first
1978 First use of
to image lesions in living
patients
1983 Bray suggests
Epstein-Barr virus may be
involved in MS
1988 First quality
studies identifying possible
prognostic factors for MS
disability early in disease
1993 -1997 Betaseron,
controlled clinical trial for
intramuscular ACTH show
it beneficial in acute attacks
of MS
Copaxone and Avonex
trials are positive and are
later approved by the FDA
1973 Preliminary Belfast-
2000 Risk of MS in
London trial of diet low
in animal fat plus evening
primrose oil suggested
some benefit for MS
children with conjugal
MS parents 30.5 percent,
similar to the risk of
identical twins
ms. voice
March 2011
Page 29
Pregnancy
&
MS
A
pproximately twice as many
women as men have MS. Most
women are diagnosed in their
twenties and thirties just at the time when
they may be thinking about starting a
family. The issue of pregnancy and MS is
therefore an important one.
The major factors in the decision to have
children are the same for people with
MS as they are for other people. The
decision whether to have family and when
to start is a very personal one and needs
to be made with attention to current and
future emotional, financial and medical
considerations.
As with all couples considering becoming
parents it is important that this has been
carefully considered and that you are
both emotionally prepared. However, in
addition, women who have been diagnosed
with MS may have concerns about how
the disease will affect their ability to have
children and how pregnancy and delivery
may exacerbate their MS.
Page 30
ms. voice
March 2011
How does MS affect
pregnancy and childbirth?
R
esearch reveals that MS does not
affect a woman’s fertility or her
ability to carry or deliver a healthy
child. While fertility does not appear
to be impaired in men with MS, nerve
damage caused by MS and its symptoms
can impact on sexual function. Medical
treatments are available, as is the option
to use IVF. Men with MS also need to be
cautious about medications when a couple
is actively trying to conceive.
Couples do not need to be concerned that a
woman’s MS will affect her ability to have
a normal, healthy baby. MS has not been
found to affect the course of pregnancy
or labour. Neither does it increase the
risk of miscarriages, complications during
labour or delivery, foetal malformations
or stillbirths. Epidural anaesthesia is
considered safe to use for pain relief during
labour and has been found to be beneficial
for women who experience spasticity.
Either general or epidural anaesthesia
is recommended for women requiring
caesarean section.
Will Pregnancy affect my
MS?
S
ome MS symptoms may become
more prominent during pregnancy,
including fatigue, bladder urgency
and frequency, as well as balance and back
pain. But pregnancy and child birth does
not have any long-term effects on disease
progression and long-term disability.
In fact, it has been widely reported that MS
relapses can significantly reduce during
the third trimester of pregnancy. While
relapses can also increase during the first
three months after childbirth, breastfeeding has been found to potentially keep
relapses at bay. As a result, further research
is underway into the potential relationship
between hormones that may be common
to pregnancy, lactation and MS disease
activity.
When deciding how long to continue
breast feed it is important to take into
consideration fatigue which may affect your
strength to do it safely and that it does
not require any medications that might
be unsafe for the baby. It is recommended
that women talk to their neurologist or
GP about the best time to recommence
their MS medications. Since fatigue can
sometimes affect milk production, it is
important for the new mother to eat well,
get plenty of rest and have sufficient help
available in the home.
What medications are safe
for use during pregnancy and
breast-feeding?
A
s a general rule, the use of any
medications during pregnancy
ms. voice
March 2011
Page 31
and breast-feeding (including ones
bought over-the-counter) should be done
cautiously and under the supervision of
your GP. If at all possible, a woman who
wishes to become pregnant should consult
her GP prior to conception about any
medications she may be taking. The GP
will eliminate any unnecessary medications
and substitute safer ones where
required. As the risks during pregnancy
are unknown, the disease-modifying
treatments—Betaferon®, Avonex® and
Copaxone®— -are not considered safe
for use during pregnancy. A woman who
is taking one of these medications and
wishes to become pregnant should review
treatment options with her neurologist
or GP. A woman who becomes pregnant
while taking any medications should
review them with her doctor as soon as
possible. Similarly, men may also need
to cease use of these treatments to assist
spermatogenesis (sperm production) and
should seek the advice of their treating
doctor.
P
Is MS inherited?
eople with MS may be concerned
about passing the disease on to
their children. The recurrence risk
(the chance that another family member
will develop MS if one already has the
disease) for first-degree relatives (parents,
children, siblings) of persons with MS
have been determined by observation over
many years. Although this risk can vary
in special circumstances, if one parent has
MS, the risk for an offspring to eventually
develop the disease is approximately 3-5
percent, depending on parent and offspring
gender. It is very similar to the risk for
brothers and sisters of the affected parent.
This risk drops with the decrease in the
proportion of genes shared by individuals.
For example, while children share half
their genes with each parent, first cousins
Page 32
ms. voice
March 2011
only share one eighth of their genes and
thus, their risk to develop MS is perhaps
slightly more than half-a-percent. The
overall recurrence risks may seem low
at 3-5 percent, but this is still a 50-fold
increased risk compared to the general
population. To illustrate, a person with
MS with five children would have a one
in five chance that one of the children will
develop MS during his or her lifetime.
While research suggests that there
is a genetic component involved in
susceptibility to developing the disease,
MS is a complex disease which unlike
some diseases cannot be linked to a single
genetic defect. Rather it is believed that
there is an environmental component to
the emergence of this illness. So although
having a parent with MS increases the
risk, it is important to remember that
the risk remains quite small. Children
who have a parent with MS have an
approximate 3% (3 out of 100) chance of
developing MS themselves. The risk in the
general population is approximately 0.3%
(that is, 3 children out of 1000 will get
MS).
O
Reducing Risk
ne of the environmental factors
which has been widely researched in
relation to MS is vitamin D. There
has long been speculation of a link between
susceptibility to MS and exposure to
sunlight and ultraviolet radiation due to
the geographical frequency of MS. The
prevalence of MS is greater in populations
located further away from the equator,
nearer to the colder areas of the world.
This has been supported by research
indicating that reduced exposure to
sunlight during childhood increased MS
risk (1).
In a recent study published in the journal
Genome Research (4), researchers were
able to show the extent to which vitamin
D deficiency may increase susceptibility to
multiple sclerosis, along with a wide range
of other diseases. The gene study, led by
Oxford University, provided evidence
which supported a role for vitamin D in
susceptibility to a host of diseases.
Scientists mapped the points at which
vitamin D interacts with our DNA –
and identified over 200 genes directly
influenced by vitamin D. They used new
DNA sequencing technology to create a
map of vitamin D receptor binding across
the genome. The vitamin D receptor is
a protein activated by vitamin D, which
attaches itself to DNA and thus influences
what proteins are made from our genetic
code.
The researchers found 2,776 binding
sites for the vitamin D receptor along
the length of the genome. What was
particularly interesting was that these
receptor sites were unusually concentrated
near a number of genes associated with
susceptibility to autoimmune conditions
such as MS, Crohn’s disease, lupus and
rheumatoid arthritis, and to cancers
such as chronic lymphocytic leukaemia
and colorectal cancer. They also showed
that vitamin D had a significant effect
on the activity of 229 genes including
IRF8, previously associated with MS, and
PTPN2, associated with Crohn’s disease
and type 1 diabetes.
The first author of the paper, Dr Sreeram
Ramagopalan from the Wellcome Trust
Centre for Human Genetics at Oxford
University, adds: ‘Vitamin D supplements
during pregnancy and the early years
could have a beneficial effect on a child’s
health in later life.’
This supports previous research published
in PLoS Genetics by Oxford University in
February 2009 (3) found evidence that a
direct interaction between Vitamin D and
a common genetic variant alters the risk of
developing MS. The study suggested that
vitamin D deficiency during pregnancy
and the early years of development may
increase the risk of offspring developing
MS later in life.
‘Taking Vitamin D supplements during
pregnancy and the early years may reduce
the risk of a child developing MS in later
life,’ said Dr Sreeram Ramagopalan, who
was also lead author of this paper. ‘Vitamin
D is a safe and relatively cheap supplement
with substantial potential health benefits.
There is accumulating evidence that it can
reduce the risk of developing cancer and
offer protection from other autoimmune
diseases.’
References
1. Childhood sun exposure influences risk
of multiple sclerosis in monozygotic twins.
Neurology 2007;69:381-388
Islam T et al.
2. “Expression of the Multiple SclerosisAssociated MHC Class II Allele HLADRB1*1501 Is Regulated by Vitamin D.”
PLoS Genetics February 2009
Sreeram V. Ramagopalan,Narelle J. Maugeri,
Lahiru Handunnetthi, Matthew R.Lincoln,
Sarah-Michelle Orton, David A. Dyment,
Gabriele C. DeLuca,Blanca M. Herrera,
Michael J. Chao, A. Dessa Sadovnick, George
C.Ebers, Julian C. Knight.
3. Expression of the Multiple SclerosisAssociated MHC Class II Allele HLADRB1*1501 Is Regulated by Vitamin D.
PLoS Genetics February 2009
Sreeram V. Ramagopalan,
4. Gene study supports link between
vitamin D deficiency and disease. Oxford
University.
Genome Research August 2010
ms. voice
March 2011
Page 33
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