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Some forms of multiple sclerosis are hereditary after all. After many years of saying that MS is not passed down the generations, new research now says the opposite.

Although past studies have suggested that genetic risk factors could increase the risk of developing the disease, up until now, there has been no evidence that the disease is directly inherited.

Prof. Carles Vilariño-Güell.
Prof. Carles Vilariño-Güell.

Researchers from the University of British Columbia and Vancouver Coastal Health, in Canada, led by Prof. Carles Vilariño-Güell, report that they have proven that multiple sclerosis can result from a single genetic mutation on a gene called NR1H3. This, they say, produces a protein that acts as an “on-off switch” for other genes.

In the study’s results1, published in the journal Neuron, the researchers explain that some of the other genes either work to stop myelin-damaging inflammation or create new myelin to repair the damage.

Myelin, often described as the protective layer that protects nerve tissues, is the fatty material that surrounds neurons and helps send electrical signals. When myelin is damaged, it disrupts the communication between the brain and the rest of the body, producing well-known MS symptoms including vision problems, muscle weakness, balance issues, and cognitive impairments.

MS hereditary gene mutation is key

The researchers say their findings could help develop therapies that either target the NR1H3 gene or that neutralize the mutation’s effects.

Just 1 in 1,000 people with MS have this specific mutation, according to the researchers. However, the finding uncovers the biological pathway that leads to the rapidly progressive form of MS, which accounts for 15% of people with the disease.

Prof. Vilariño-Güell said: “This mutation puts these people at the edge of a cliff but something has to give them the push to set the disease process in motion.”

The team believes that its discovery could improve understanding of the more common relapsing remitting MS. This is because it typically develops into the secondary progressive type.

Following on from the study, the researchers say that screening for this particular mutation in individuals at risk for MS could make it easier to diagnose it earlier and begin treatment before the onset of symptoms. For example, if individuals with a family history of the disease carry the mutation, they could opt to increase their vitamin D intake; low levels of the vitamin have been linked to MS.


1 To arrive at their findings, the researchers used blood samples taken from 4,400 people with MS and 8,600 blood relatives as part of a 20-year project funded by the MS Society of Canada and the Multiple Sclerosis Scientific Research Foundation.

They found the mutation in two Canadian families in which several members had a rapidly progressive type of the disease. In these families, two-thirds of the people with the genetic mutation developed MS.

Note: Multiple Sclerosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this blog article are not those of Multiple Sclerosis News Today and are intended to spark discussion about issues pertaining to Multiple Sclerosis.

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Ian Franks is Managing Editor of the Columns division of BioNews Services. He has enjoyed a successful career as a journalist, from reporter to editor, in the print media; during which he gained a Journalist of the Year award in his native UK. He was diagnosed with MS in 2002 but continued working until mobility problems forced him to retire early in late 2006. He now lives in the south of Spain and uses his skills to write his own flourishing specialist MS, Health & Disability blog at Besides MS, Ian is also able to write about both epilepsy and cardiovascular matters from a patient’s perspective and is a keen advocate on mobility and accessibility issues.
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  1. Roslyn Accardo says:

    I am 62 years old. A Mother of a Son who supposedly has MS. My gut tells me there is a sort of internal parasite, of which I suffer, which has not been identified. This has caused incredible stomach pain for a number of years now since he was in Europe studying. No one can figure this out. He can’t eat without pain…every test you can think of. No results. However, now at my age, I wake up with shaking hands, my legs jump, an inner agitation, and only valium will allow me to get back to sleep. I know he needs help from someone to identify this horrific stomach issue. However, I don’t know where to go. He does take Copaxone. The MRI showed no new signs of lesions. I still don’t believe that an undetermined bacteria of some sort is causing this,or at least contributing. However, my symptoms described above, within the last two years, lends pause. Please advise. I would like to get my Son together before I am not here anymore. I do feel there is something wrong with me…scary, not determined. Did I pass this on (ms) do I have it? Who cares at this point as far as I am concerned, or is there some physician who specializes in bacterial infections not yet determined by the usual tests to whom I can reach out to help him at least. He has had everything internally done…no positives. Yet, he suffers terribly every day. Please advise. Thank you. I know this is without merit, however, sometimes, a Mother just knows. She just knows.

    • CityGal says:

      I don’t know where you live, but in the San Francisco there are specialists in bacterial infections at UCSF. I love UCSF. They are amazing. I’m sure there are bacterial specialists at any major medical center, though.

  2. Charles FINN, MD says:

    Ampyra is a bunch of BS. IF YOUR GETTING HELP, GREAT, I’M HAPPY FOR YOU! As an MD it only helps the pharm company. I bet on at lease 1 appointment you have seen the hot cheerleeder type in a tight dress and low cut top sitting in your Neurologist office with a Big quantity of food. Your Doc and staff really enjoyed the bribe. I’m also sure your Doc and colleagues enjoyed an expensive restaurant and wine (another bribe). More important, let’s not forget, the huge salaries the Doc’s are paid to publish useless case studies (a Big bribe). The last time I checked there were no level 1 evidence research studies published on Ampyra. For the people who arn’t Doc’s or Scientists these are the only legitimate, blinded, honest studies when research studies are published. These companies make hundreds of millions if there product works. They lose millions if It’s not effective. Save yourself lots of bucks and buy It from a Compound Pharmacy. The active Compound Is identical. The Ampyra package insert has a warning about taking both because your taking a double dose. There are no conflict of interest and nothing was given to anyone for this post.

    • James says:

      I was diagnosed with MS in 2000
      I had no treatment for my symptoms (which we undetectable apart from the numb feeling in my cheek that led to the diagnosis – which disappeared). Then in 2010 I started feeling some numbness in my legs, which was the kick I needed to start doing something – I now take tysabri, which has halted any further progression, and I also take Fampyra(ampyra or fampridine), and I can definitely tell you if I don’t take my fampyra tablet one time, I FEEL IT!
      Fampyra definitely works for me!

      • James says:

        Sorry, I forgot to say
        I have tried the compound pharmacy version, it does work, but it is definitely not as effective as Fampyra.

    • Debra Guerra says:

      I take Ampyra. I approached my neurologist when I learned of the medicine. Experienced immediate improvement. I am unable to walk without it. I’m so sorry you did not have positive experience.

    • Peggy Yeager says:

      My husband takes Aminopyridine, which is the cheaper compound version of Ampyra (costs us $48.91/mth) and has done well with it. He is full time in a wheelchair and cannot stand. However, both us and his neurologist feel that this drug has helped to stabilize the progression of his MS as he has had very little progression of it in the last 5 yrs that he has been taking the drug. He has the primary progression form of MS.

    • JJ Steiner says:

      I was in one of the first blind studies for interferon-beta back in 1992.. I was taking the shots every other day, religiously..Along with hoping the drug would help my illness from progressing, I got a seizure disorder and other side effects that I had to take 3 more drugs for.. A few years later, I had moved to another state and saw another doctor who change the drug to Avonex, which was once a week.. I took that religiously also.. A few years later my doctor told me that the MS had progressed to Secondary Progressive.. I thought, why am I harming myself by taking this drug if it is not working for me.. So I had a talk with my neurologist and told him that I was going to stop taking the drug.. In doing so, the anxiety stopped, and numerous side effects, also.. Along with my vitamins I normally took, I added vitamin D3.. It has been over 10 years since I stopped taking anything and I am much happier.. the MS is still at secondary progressive.. I am still ambulatory with the help of a cane, or a walker at times.. And if I am going to a farmers market or a fair, I take my scooter chair..
      I will wait for a cure before I am “talked into” taking another drug.. You are so right about pharmaceutical companies making a lot of money on “treatments”.. Its time we stand up against this..

      • JJ Steiner says:

        also, I have one first cousin with MS and a second cousin with MS, so I know what side of the family this comes from.. Meant to say ty for posting this info.. I wont tell family about it because I don’t want to cause another war..

  3. I have MS I am 40 I have a hard time remembering things been married for 14 years and remember telling my diabetic doctor my legs jump he said it was my diabetes I told him really there has to be something wrong found out needed triple bypass but still nothing about legs that was in 08 now it is 2016 I have memory loss my husband gets so irrated with me I feel like he is making me feel very small he is a gentlemen too he has been threw heck and back with me I no longer work I can’t to weak and with my heart diabetes MS brain bleed from a job I use to work at I got hit by resident. Was not covered I gave him books to read to understand he said he read some 3 minutes I don’t know I know he is stressed so am I is MS heriditary?

  4. Janice Golding says:

    I’m 43 and had my DX in 2013 at 40 yrs old I have been taking Tecfidera the whole time with my diabetic med and nerve med for my legs.I knew it was hereditary because my fathers mother has it, my father and now me.

  5. Trudy says:

    My mother, my cousin and I have MS…
    So I would be interested in having my son tested for the gene, and I am quite sure my cousin would wish the same for her twin girls…

    • Gina Massingill says:

      I just went to The Philippines to have HSCT for my MS. I did not qualify for the USA trial. HSCT has been shown to stop MS 90% of the time. It basically reboots your immune system with chemo. When I returned I discovered that because I was not going to take Tecfidera anymore Blue Cross Blue Shield will no longer cover Ampryra for me. I am now taking the compounded version. It does help my walking speed. I have had MS for 25 years and after only 5 months I can tell the MS has become inactive. An MRI in a few months will tell us for sure. It does not repair the old damage but my body seems to be trying to do some repair. I no longer feel I am headed to a wheelchair. Feel a bit better every month.
      Thank goodness for Facebook and all of the info that led me to treatment.

  6. Kayla says:

    I am the only one in my family, both maternal and paternal, that has MS (that I know of right now). I was also diagnosed at the age of 15 in 2008. If there is a way to test for that particular gene, then I am greatly interested and curious. I’m sure my parents would be interested in that too.

      • Kayla says:

        Elaine, I was barely able to see out of my right eye due to optic neuritis. There was a dark cloud that disturbed my vision. It was also very painful when I moved my eye from side to side. These symptoms were followed by some double vision in my left eye and then loss of balance.

    • Maralyn Smith says:

      I’m 66 and only recently diagnosed but feel I’ve had ms most of my life. My shoes were built up from the age of 3, then I kept falling over, losing balance and breaking arms. At 13 I had a lot of leg pain and was told it was osteomyelitis but was in and out of plaster as they said it could be bent bones. Still falling & breaking arms in the meantime. Overcome with really bad depression in late 20’s & early 30’s then at 44 couldn’t walk at all. Was told it was reflex sympathetic dystrophy. Carried on falling over and breaking bones. 4 years ago had a really bad dizzy spell and doc thought it was a mild stroke. Unable to even walk in a straight line for months. Hospital then said it was migraine then later changed their mind and said it was early onset Parkinson’s disease. New neurologist is great at last but recently fell again and broke my arm. Now have arm in splint and wearing leg braces. Will not give in as not going to use a wheelchair. Just feel sad that not diagnosed sooner as medications could maybe have helped me remain more mobile for longer.

      • Ian Franks says:

        Hi Maralyn, I am so sorry to hear of your distressing experience. Now that you have been diagnosed, at last, I do hope that you are receiving suitable treatment. Above all, keep positive.

  7. Helen says:

    Hi my name is Helen ,I am 57 yrs young and was dx back in 2008 after having problems with tripping over ,memory, blurred vision , spasms ,and many more , my mum passed away in 2004 from MS and was 64 , mum dx in 1976 and progression was full on , within 2yrs she was wheelchair bound unable to use her arms ,hands , doubly incontinent , so I knew all about it , I was told many years ago before dx that I had Fybromayalga , but I knew I had it , I just hope that these Dr’s look into more testing to know that it is hereditary, I have a son of 40 and grandchildren and hope and pray it ends with me .ps My mum suffered a lot and her MS was extreme and I must point out that I am still able to walk with a crutch ,have spasms ,eye problems and memory loss also sleep problems and incontinence but nothing like my dear mum had . God bless to all

    • Ian Franks says:

      Helen, thanks for commenting. Do you see a neurologist? I would say that he or she is the one to whom you should express your concerns. I am not a doctor, just a fellow patient so my only advice is to put your worries to a doctor. Good luck.

  8. Adam says:

    This was an interesting article. My father was diagnosed I would say at least when he was in his mid 30’s. He’s 74 now. The treatments he is on seem to be doing well for him under his neurologists care. I have been told for years that this is not hereditary. While I am not panicking, if there is testing that can test myself and my younger brother (I’m in my late 40’s and he’s in his late 30’s), why not know so we can be as proactive as we can to the extent possible. Is there genetic testing being embraced by our US Practitioners? If so how or what is involved?

  9. aston gilis says:

    Is there testing for this yet? My father was diagnosed over 40 years ago and while well, we have only heard it’s not hereditary. I found your article very interesting and refreshing. IS there genetic testing that US Practitioners are embracing in the US? If my brother or I carry the gene, then at least we know and can be proactive about it to the best extent possible. Or at a minimum, we keep our children aware of as they care for themselves throughout the years.

  10. Jance says:

    My mom had 2 sisters in her family> My Mom and both her sisters had/has a child with M.S. how that relates to me is one male cousin how lost his battle to M.S. about 30 years ago. one female cousin (56) and my older sister (58) currently fighting M.S. . hers I know is secondary progressive.

  11. Diana Zagiel says:

    My sister was diagnosed with the very progressive form of MS at just 28 years old. She was paralyzed and in a wheelchair by the age of 30. She just died July, 2015 at the age of 51.
    My question is: Since she had the very progressive form, is it hereditary? I have 4 daughters and 2 granddaughters that I worry about every day. My oldest daughter is starting to have little signs like, vision problems, equilibrium issues, back & hip issues.. What test or tests should I have my girls get to see if they are at risk for the disease?? Thank you

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