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July 30, 2007
Genetic breakthrough offers MS sufferers hope of new treatment
The first genetic advance in multiple sclerosis research in three decades has opened new approaches to treating the neurological disorder, scientists said yesterday.
Research has identified two genetic variants that each raises a person’s risk of developing MS by about 30 per cent, shedding new light on the origins of the autoimmune disease that could ultimately lead to better therapies.
The two genes are the first to be linked conclusively to MS since the mid-1970s, when the only other gene that is known to contribute to the condition was found.
Their discovery is particularly promising as both are involved in managing the activity of T-cells, the “infantry” of the immune system that sometimes mistakenly attack healthy tissue to cause autoimmune conditions. In MS, the immune system starts to destroy the fatty myelin sheaths that insulate nerve cells, leading to progressive neurological damage.
Both genes, which control receptors that T-cells use to find their targets, are potential targets for new drugs to control MS. They were found in a major study of the genetics of MS published in the New England Journal of Medicine, and the significance of one has been confirmed in two separate papers published in Nature Genetics.
Scientists said that the genes would have important implications for understanding the disease and ultimately for treating it.
Margaret Pericak-Vance of the University of Miami, a senior member of both research groups, said: “They give us a new way of looking at the biology of the disease, and could be targets for therapeutic development."
Stephen Hauser, Professor of Neurology at the University of California, San Francisco, said of one of the genes, the interleukin-7 receptor (IL-7R): “I believe that this receptor and its interaction with regulatory T-cells will now become a major focus of research on MS.”
While MS is not directly inherited or caused by a single gene, it is known to be partly inheritable: people with close relatives who have the condition are at higher risk. Since the 1970s, however, only one gene that contributes to a raised risk has been identfied. A variant of this gene, known as HLA-DRB1, seems to make the body worse at recognising its own tissue, and increases an individual’s chances of developing MS by up to four times.
The new genetic variants affect a different part of the immune system, the control receptors on T-cells that act as receiving antennae for interleukins – proteins that summon these killer cells to attack invaders.
Each has less effect on MS than HLA-DRB1, raising the risk by about 30 per cent, but both are common.
Some 72 per cent of white Europeans have the most damaging version of the interleukin-2 receptor (IL-2R) gene, while 56 per cent have the most damaging variant of the IL-7R gene.
This indicates that these genes are far from the only contributors to MS – the overwhelming majority of people who carry the risky variants are healthy. Many other genes, as well as environmental factors, are involved.
David Hafler, Professor of Neurology at Harvard Medical School in Boston, who led one of the research teams, said: “Each gene contributes only a small amount of risk. The big question is, how do they interact with each other, and are they in common pathways? A major effort to understand the full complement of genes involved in MS will be necessary to completely understand the disease.” A fuller knowledge of how the genes raise risk, however, will still be useful in designing new drugs. It may even prove possible to correct the inter-leukin signalling pathways to stop the condition from developing.
Simon Gregory, of Duke University in North Carolina, who contributed to the research, said: “Our finding is very important because the genetic factors that are already known to be associated with multiple sclerosis only explain less than half of the total genetic basis for the disease.”
The discovery that IL-2R is linked to MS is also significant because previous research has suggested it also contributes to two other autoimmune conditions, type 1 diabetes and autoimmune thyroid disease.
“Scientists are increasingly finding genetic links between autoimmune diseases that affect different tissues in the body, including type 1 diabetes and rheumatoid arthritis,” Professor Hafler said. “This study will likely spur further research into the connection between these seemingly separate conditions.”
The findings have emerged from two slightly different approaches to gene-hunting that have become possible because of advancing technology and the mapping of the human genome. The most important was a genome-wide association study, which scanned more than 500,000 genetic variations from more than 13,000 people to find associations between particular mutations and MS.
“People have been looking for genes involved in MS for 30 years,” Professor Hafler said. “Why weren’t they found? The answer is you couldn’t do it without the sequence of the human genome.”
Lee Dunster, of the MS Society, said: “One of the great unknowns about MS is what causes it and this looks like a welcome breakthrough in getting to grips with the genetics behind the disease. People with MS often worry about what caused it, and particularly whether it will affect their children, so a better understanding of the role of certain genes is good news. These latest findings will be of great interest to researchers trying to develop future treatments.”
The NHS is considering funding a trial to compare an unlicensed drug which prevents blindness with its expensive, licensed counterpart. British doctors, in a challenge to the prices charged by pharmaceutical companies for Lucentis, are preparing to offer their patients Avastin, its cheaper but unlicensed counterpart which is used widely in the US. Both drugs can save the vision of those who develop an eye degeneration disease but Lucentis costs so much — £761.20 per injection — that it is recommended only in the worst cases.
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It's all about diet!!!!!!!!!!!!!!!!!!
More and more people are curing MS from simply following a very strict diet. Candida over-growth is also being linked with MS.
Search on google and you will find all the answers.
Vini, Reading, UK
my mom has been diagnosed with chronic ms about 4 years ago her vision, bladder, bowels pancreas have all been seriosly affected she had problems with her back bladder and leg dragging it for years before she was hospitalized or even diagnosed she used to pick eack leg up and drag it she always has so much zest for living she even has to get the lift to put her in the wheel chair, the neurologist told her she never will be able to use legs or be able to get into the wheel chair which was a very discouraging thing to tell her, she ended up in home after she collasped from bladder infection, its so sad to see this happen to her i have chronic fibromalgia myself and already 2 bad bouts with cancer, why i am not able to personally care for her nothing would make me or my mom happier if she could be able to be cured even a small amount i really hope they make enough advances before she dies, she has so must zest for life....godbless and best of luck in your advances....
janice decourcey, charlottetown, p.e.i. canada
I have watched my mother whom has MS for years now. I really do not like to see the pain she is going through. I would really like if they could find the genes that are related, as now they are finding that I have nerve damage. The are running an MRI in the next week. I really do hope that something can be done with MS, as it is a progressive disease and very painful.
Jennifer, South Milwaukee, WI
My thoughts....
With so many other diseases taking so much of the limelight these days, it's refreshing to have the spotlight turned, somewhat, on new finding for people with MS. I, too, was diagnosed in 1994, and am doing fairly well with my disease, taking Copaxone shots daily. I feel very fortunate to be as well as I am. I'm 60 years old and carrying on a pretty regular lifestyle, but never have MS out of my thoughts.
I'm absolutely convinced that how you deal with this disease, mentally, is as important as taking a drug for its treatment. Keeping a good outlook on life is VERY important.
If this finding leads to help for us, then the research $$$ have been well spent. I truly hope this leads to bigger findings
Denny, Harrisburg, PA
Thanks to the MSers of the world. We have MS but don't let MS have you. Think positive, exercise (PT) and control your temper and LIFE. GOD is Great and worthy to be served. We have MS and we must work to find a cure not just for us but fure MSers. I am a self-help MS support group leader for Alabama and try to spead the word about MS; it is not a death sentence just an attention getter. There is a reason for this Madnest and we will figure it out in the sweet By and By.
Felisa Barley, Montgomery, Alabama
I feel that you should always be open minded and optimistic. The Lord is the only great miracle we have and he will give us a cure when the time is right. I stopped going to MS support meetings because everyone there was so downing about everything, we need to look to the positive and keep smiling and enjoy your life. I was diagnosed when I was 29 years old and my moto has now become one day at a time and be happy with it.
Summer, Martinsburg, WV
Summer, Martinsburg, WV
jbukes@comcast.netI knew something was wrong in '84 when I was having trouble walking. Went from doctor to doctor & they all said I didn't have MS. You know,it was probably good 'cause , if I had known then, I may have just given up. Miraculously, I got married (1st time, at age 46) and limped on with my life! Actually learned I had MS at age 49. Have been giving myself injections daily for the past 15 years. Is it doing any good? I don't really know, but I exercise every day, take enough vitamins, get rest and thank the Lord that He is with me. Yes to a cure, no to embrionic stem cell research, yeah to all MSers! I wish I could reach through and hug each one of you. Keep smiling and keep thanking the lord that he'll always be with you.
Jacquelyn Hyatt Bukes, Mount Lebanon , PA/USA
Here we go again. Anoter breakthrough that will vanich into thin air like all the others before. I am 43 years old and have had MS for almost 10 years - have spent over $100K on just about everything that coincidentally was backed by so called testimonials and yet I am just abouy ready for a wheelchair.MS is like any other chronic incurable disease with one major difference and that is that the indiv idual effects can vary in severity from a slight drizzle to a category 5 cyclone.Yes let us be grateful that we are breathing etc etc but don't hold your breath waiting for any miracles - we are the cash cows for all involved with MS including Doctors, pharmaceutical companies,support groups etc
JIM BILLIRIS, KINGSGROVE, NSW AUSTRALIA
Hi There
As the first family member to have M.S and having a very young familiy of my own the news has come as a bit of a shock in one way but on a more positive front any breakthrough in understanding MS is good.
At 37 diagnosed with Secondary Progressive MS.
All I can say to those who are reading this "Keep Smiling and Enjoy your life however painful and upsetting"
Diana, Northampton, United Kingdom
I've followed these announcements for 40 years since my father died due to a severe case of MS in 1963 at the age of 33. Now I also have a severe case of the ailment after overtly coming down with it in 2002 at the age of 46. 5 and a half years later leaves me severely restricted to the point I can no longer walk and will soon need to be restricted to a wheelchair or some a externally powered devise . For anyone to repeat this ailment in not genetic is absolutely ignoring the facts many of us have known for generations There is an almost unbroken connection of the ailment in my paternal line going back over a century.
Many people like me have run out of time since the multi-billion annual industry maintained by a select few drug companies distributes drugs designed to only control this ailment. None are designed to cure it all and there won't be until the federal government takes charge. Those drug companies aren't about to cure the 400,000 plus cash cows.
Joseph, Canton, Pennsylvania/USA
I was diagnosed with MS at around age 46. I am now 75 and live one day at a time. My youngest daughter, age 46, was just diagnosed with MS, and my oldest daughter, age 49, may now have MS (hasn't been seen my neurologist yet, but had lesions on MRI and difficulty with her legs). This seems more than a coincidence to me. Hopefully this research will finally bring about a great breakthrough in this dreaded disease.
Eleanor Conrad, Alexandria, USA Ohio
Hi Fellow Ms'ers. This is my wish come true. I really believe that one day I will wake up and the headline will read "MS Cure Found". That is the way I live my life - optimistically looking forward to the day when life returns to normal, but not waiting for the cure to LIVE! First problem in 1989, diagnosed in 1992 at age 36 with relapsing-remitting. A distant cousin has Lupus, and one of my distant ancestors had an illness that affected her walking around 1800, may have been a case of MS. Stem cell research from frozen embryos going to be DESTROYED ANYWAY is a key to your and my future. Good luck to all of us!
Gracie, San Antonio, Texas/USA
I've read the article and all the comments. I've been living with MS since the late 90's and there is no other person near me, in my family, or even extended family with MS. I'm very much "alone" here. I do have wonderful support and lean on my family, sometimes quite literally. I don't want anyone in my family to develop MS, but I just don't see a genetic link in my case. Perhaps we're predesposed to MS and then it's triggered by an environmental exposure. Let the research continue and may we all find our answers...and a CURE! Oh, and stem cell research doesn't have to kill the unborn.
Rachel, Asheville, NC, USA
Very Interesting!! I was diagnosed with MS in 1999, at 21. Relapsing/Remitting. My oldest sister was also diagnosed at 21, she ended up having chronic progressive, and died from complications at 38; 5 years ago. My grandma also has MS. I am not surprised they are finally finding a genetic link. My family was involved in the genetic study. I definetly belive in the power of exercise; has done wonders for me. Also, taking magnesium citrate everyday - has really helped with the constipation. Calcium and vitamin D, are important too. I found that the biggest part of being able to deal with my MS - is being able to stay calm, and manage my emotions; stay off the rollercoaster, and having the loving support of family. Good luck to everyone out there. Take care - a cure is comming !!
Tracy, Canada, Canada
Hey Paul Abeln. I have MS. But, I would never kill a kid just so I can be cured. I will pray for you, sir.
Tim, Denver, Co
this is all very interesting. i was diagnosed with ms in 1998. i do believe that i should've been diagnosed about 7 years previously to that, however i was diagnosed with everything from bad sinuses to anxiety attacks. i am now under the care of wonderful doctors and are always looking for new treatments and causes for ms. i have relapsing-remitting ms and it is very hard for some people to understand the pain (physically and socially) that ms causes. i am a 37 year old wife and mother of 2 (girl 3 boy 6). it's something that the children are now understanding "why mommy is tired so much". my family is very supportive of my illness. if it wasn't for my dad, i would never been in contact with my new doctors. i wait in anticipation for the new treatments and hopeful cure for this test in my life.
crystal windham, valley stream, new york
crystal windham, valley stream, new york
All of this is interesting but not any news to me. I was dianosed in 1992 by the late Dr. John Whitaker. I miss him so much but life must go on. I am very grateful for the time that I have had and te lessons that I have learned. I have been on all the ABC drugs and you think I would just give up but I can not. I am a leader for the Montgomery Self-Help group in Montgomery, AL and I know there is a cure out there. I may not see it in my life time but someone will benefit from the work and the research done in the past. So, don't give up just hold on. God's not threw with us yet. I love every one out there and I know things get difficult believe me I know. I have been there and I am still here. Help me and yourself by fighting the fight.
Felisa Barley
Montgomery, AL
Felisa Barley, Montgomery, Alabama
I think the Bush administration has done a real disservice to the country by blocking real stem cell research. The faith-based administration is anti-science and corrupt. We have lost eight years of progressive research due to the administration's stranglehold on research monies. My wife was diagnosed with MS 20 years ago and is experiencing extreme degradation of cognition and mobility. Hopefully, this scientific breakthrough might have a positive impact on finding an effective therapy.
Paul ABeln, Minneapolis, USA / Minnesota
Very interesting...and not too surprising. My great grandmother had type 1 diabetes and rheumatoid arthritis. My uncle also has type 1 diabetes. My mom has MS. I have rheumatoid arthritis. I know this is not all a coincidence. The more we know, the better!
Regan, North Carolina,
Over 3 yrs ago I got very ill and after numerous tests was told by a Professor of Neurology that I had a mild stroke - later on I was told by my Internist that I had vertigo - after more MRI's I was finally diagnosed with MS - It was sureal to me at the time and sometimes still is - I am not in denial but I try to live my life with it & not let IT live my life.... my glass is always half full as there must be some light at the end of the tunnel - so maybe this is the beginning of that light....
Maggie, Ossining, NY
ihad my first episode in 1981.didnt know what it was.optic nueritis in 87. then i was diagnosed.i swim 4 times a week.lift weights everday.must keep toned.keeping well physicaly keeps you well mentally.
mike goldberg, wellington, florida
I have Relapsing Remitting MS and lost my sister to complications of Chronic Progressive MS in 2004. Genetics was a definite cause in both our minds. We have left 6 girls between us and would really welcome a way to find out their genetic status. I think pregnancy is a factor in the disease and I agree wholeheartedly about sugar. When I have a sugar binge, the symptoms get much worse. A review of the metabolic-related chromosome will probably also result in a relationship. Blessings to those doing research. You are making a difference in the future of us and our loved ones.
Debbie, Miami,
Over 3 yrs ago I got very ill and after numerous tests was told by a Professor of Neurology that I had a mild stroke - later on I was told by my Internist that I had vertigo - after more MRI's I was finally diagnosed with MS - It was sureal to me at the time and sometimes still is - I am not in denial but I try to live my life with it & not let IT live my life.... my glass is always half full as there must be some light at the end of the tunnel - so maybe this is the beginning of that light....
Maggie, Ossining, NY
My mother has two cousins that have MS, my father had one cousin that had MS, I was diagnosed with MS at 25 and am now 54, my daughter was diagnosed with MS at 25 and is now 31. There is definitely some link and is more complicated than T cells. I am doing great after almost 30 years with the disease. I think there is a link to Vitamin D (sunshine), essential fatty acids (the way we digest them) sensitivities to wheat ,dairy, sugar and corn. I have been taking cod liver oil, and excerciseing watching my diet. MS patients have to think of their bodys needing special care to run properly.
connie schaafsma, enumclaw, WA
when the world realizes the true number of people afflicted with ms, they'll start putting some effort into "helping" us find a cure...
maybe this discovery will reduce time to diagnosis, while also energizing interest in research, development, and production.
c'mon scientists and drug companies...
help us know how many people have ms... then we can help you get you funding...
and then we'll buy everything you make.... really.
we need hope.
this is hopeful to us, and to our future generations...
they might not need to suffer....
and might not need to use our precious social resources....
Sparkle, Seacoast, NH
I have two daughters who are in their early 20's, who have a grandmother with ms. I wonder if they should be told that her conditions are hereditary
pat gagne, La Mirada, CA
Hey babe, I found this interesting.
Jen, antelope, ca
Very interesting! I am a person living with the uninvited guest
Multiple Sclerosis, diagnosed in 2004. I think that I have had it for at least 10 years. I heard all the time that it could be this, or it could be that,everything but M.S. I finally found the people who kept sending me in the right direction, and I got, with mixed emotions a definate answer. I took part in a 2 year clinical trial, I was willing to do anything to help others like me. I hope that people step up to the plate and join any clinical trials for the fight against M.S.
Debra Ohler, Ridgeway, Ohio