Is MS hereditary? Yes, According to New Study

Is MS hereditary? Yes, According to New Study

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.

http://news.ubc.ca/2016/06/01/ubc-vancouver-coastal-health-scientists-find-genetic-cause-of-multiple-sclerosis/

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.

57 comments

  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.

    • Stephanie says:

      My daughter had really bad stomach pain for a few years. We took her out of all stressful things ( school) and after 4 months she is doing so much better. It could be something that is stressing your son out really bad. I would still try and find doctors to help and make sure it is not an unknown bacteria. Sometimes a show is on Animal Planet about things living inside of you. Maybe check into that and see if you can find doctors through them.

    • Mary Bennett says:

      Roslyn Accardo, I had the eating problem also, & it took 7 years for them to figure it out. Had my gall bladder removed, & didn’t help. Finally got a great doc who did an ERCP, & found out my common bile duct wasn’t opened, & had to just snip it open.to drain. Had to have it done a year later. That was in the mid nineties, & starting to have the problem again. Seeing this doc again soon!

    • Cindy says:

      Do a little research into Leaky Gut Syndrome. I believe the types of foods in our modern processed food diet is attributed to many health conditions. We can do a lot of healing by eating unprocessed foods from natural sources grown in pure, rich soils and animal protein sources that have been fed the same.

    • Denise C. says:

      Has your son had an endoscopy and tested for H-pylori and peptic ulcers? I had the same symptoms and lost 80lbs. I finally saw a gasterinterolgist and I tested positive for this bacteria. The treatment is very intensive. However after that I found out I have lesions on my spinal cord and my head, so I am not doing well. But the lesion on the spinal cord can cause hand tremors, difficulty walking and balance issues and now vision issues.

  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.

      • My daughter has had MS for 11 yrs, probably longer but she was diagnosed at age 24. I found out last year that my grandmother had MS and died of complications at age 40, so I never met her or knew about her MS. Do you think that it is inherited?

        • I forgot to mention that my daughter has never really gone into remission and has relaxing remitting MS and has an infusion of Tysabri once a month. About a year ago she has developed Addisons disease. Do you feel the Addidon’s disease is related in some way to the MS?

    • 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.

      • Becky Stroebel says:

        I have been on it 8 weeks. I have NO improvement but I’ve been dizzy and light headed the entire time as well as super itchy. I’m going off.

    • 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.

      • Emily says:

        Joan that was my thoughts exactly.
        My father is a doctor and he has told me that this story of bribes is such a pervasive lie.

        Charles, please stop spreading misinformation around.

      • CHARLES FINN says:

        Look me up! Board certified Orthopaedic spine surgeon 4 23 years. Just my opinion. Are not, Aren’t. “TYPO”. Does it matter when your dealing wi a horrible disease? ORTHOPAEDIC, ORTHOPEDIC. Both are correct.

    • 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..

    • Al says:

      Who are you, Charles FINN? How unprofessional of you. I don’t believe you’re an md. Ampyra is a Lifesaver to me. It’s the only thing keeping me upright.

    • Jenni says:

      I took Ampyra once for my balance. I will never take it again, both my hands went numb, both came back as soon as I stop taking it!!

  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.

    • Janice Golding says:

      there has been a thought change lol my mothers mother was an Alcoholic and drank with all of her unborn children causing my mother to suffer from fetal Alcohol syndrome and that was passed to me and my Half sister she has Fibro and me MS talk about a genetic mutation lol

  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.

        • Stephanie says:

          You are so lucky that the doctors took you seriously! I had all that happen at around the same age and no one ever took me seriously. I was finally dxed 09 after I had my second child and I was 26.

          • jackie senior says:

            same her i was never taken seriously for a long time.I was 32 by the time i was diagnosed with MS but i had been having symptoms from age 14.When i had my son at 19 i went numb from the waist down for 3 month,and i was told it was post natal depression !!!! I almost felt relived when i got my diagnosis.

    • 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.

      • Kristi says:

        I too was misdiagnosed most ofy life. I’m 57 year’s old , and wasn’t diagnosed until I was 45. Doctor’s told me my symptoms were all in my head,were from depression, and was treated with every pill for depression invented since age 15.My neurologist now says my symptoms started at age 11. I started telling doctor’s in my early 20’s there was something very wrong with me…All I got was “you’re depressed”. It still infuriates me how I was talked down to and treated like a nut for 25 year’s !!!

    • My daughter was just diagnosed in late August at age 15. She had slight numbness on the side of her face. Dr at Stanford said she had a “mass” in her temperal lobe. She had surgery and many tests on this 2.5 cm mass. After a repeat MRI in August, diagnosis of RRMS was given. She turned 16 in January and has been on tysabri for 5 months and had a couple relapses which involved her eye and one side of her body. I do not know anyone with MS. She has two older siblings that are healthy. We live in sunny California and spend time in Maui and Cabo. Perplexed by it all…

      • Kayla Beltran says:

        Karen, I understand how stressful a diagnosis of MS can be. I’m 24 now (15 when diagnosed in 2008) and it has been a rollercoaster. Luckily, I’ve been stable. I have been on tysabri since 2014, and surprisingly I feel great. My mother still struggles with everything, and I see how hard it is on my family. Feel free to ask me any questions and I will try my best to answer based off my experiences with MS. 🙂

  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:

    Hello,
    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

  12. Becky Smith says:

    I’m the only one in my family who has MS. But stories of grandfather who couldn’t walk and had issues with having a blanket touch his legs. Could he have had MS instead arthritis?

    • Tim Bossie says:

      Hi Becky. Thank you for the comment and sharing your family experience. It is hard to say, and we would never want to assume anything, but we do know that there are many misdiagnosed cases of MS.

  13. James Lee says:

    OMG! I’m numb after reading this article and all the comments. I feel so stupid, and now I feel guilty. I’m in need of an expert.

    At 61, I was diagnosed with MS on Monday a week ago. My father had it and symptoms of it even in college. He died in 1985, and back then, every day was a new adventure. My mother never knew from day to day what to expect. I took care of him all during my adolescence, from getting him up at 5am to doing intermittent catherization for residual urine during the day. He was forced to retire from “Ma Bell” in 1969 simply because they wouldn’t build a ramp. His sister, my aunt had it. None of us could believe that both could have it, but they did. Now MY sister has it! She’s doing as well as can be expected, and I believe they caught hers early enough to prevent further damage. Now I have it. I am certain I have had it for decades and didn’t know it. The fatigue, the inability to walk a straight line, the falling, the vision problems, the memory loss and inability to get words to come out…it’s all been there.

    Now my daughter thinks she may have it. I listened to all of her symptoms and I’m so torn up about it. I went to medical school a couple of years before deciding I didn’t want to be a doctor, so a little knowledge is dangerous. I read constantly. I’ve ALWAYS read MS is not hereditary, without believing it. I am so concerned about my two children (my son as well, because he has exhibited symptoms) that I don’t know what to do.

    With this type of history, is there any way I can be tested for the gene, and especially my children and my two grandchildren??? I look back on all the things that happened over the course of my 34 year marriage and its decline. OMG. So much of what took place was due to the symptoms of MS. I didn’t have a clue. It never occurred to me that I could be suffering like my dad.

    Any advice and all advice would be so appreciated by this father. If you made it this far, thanks for reading.

  14. Alice says:

    Thanks for sharing.
    I was diagnosed with MS in January,2002. My life was turned up
    Side down. The first thing I remember is I started falling.
    I am during great.

  15. Linda Young says:

    I’m 75 yrs old and have suspected that I have MS for a long time. I have all 10 of the listed symptoms but I don’t know what type of a Dr. I should see. My maternal Aunt also had MS.

  16. Annemarie says:

    I have primary progressive MS and was diagnosed a mth ago with relapsing remitting,only 5 % have been diagnosed with 2 kinds of Ms, i keep having relapses; my last one is where I lost vision and had to be put on the steriods ( pill form), so I apparently had optic neuritis!

  17. PS says:

    My husband and 2 of his first cousins have MS, all on his mother’s side of the family We definitely believe this disease is hereditary.

  18. I ALSO BELIEVE THAT IT IS HEREDITARY AS MY MOM HAD A HALF SISTER WHOSE DAUGHTER HAD IT THEREFORE THIS COMES FROM THE MOMS SIDE AS MY AUNT AND MY MOM HAD SAME MOM DIFFERENT DAD SO THAT KINDA TELLS IT AS I HAVE IT ALSO! BEST ADVICE IS TO EAT AND SLEEP PROPERLY AND KEEP MOVING AS MUCH AS YOUR BODY WILL ALLOW !STAGNANCY CAUSES THINGS TO BECOME ALOT WORSE!

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