Study Identifies Possible Genetic Causes of MS

Study Identifies Possible Genetic Causes of MS

Scientists are zeroing in on mutations in a few genes that appear to be major risk factors for developing multiple sclerosis (MS). The results of their research suggest there are common biological pathways that cause the disease.

The study, “Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease,” was published in the journal PLOS Genetics.

Only about 13% of people diagnosed with MS have a close biological relative also diagnosed with the disease. In these cases, the likelihood of developing MS often is influenced significantly by one, or only a few, mutations that run in the family.

In the study, a team led by researchers at The University of British Columbia, Canada, analyzed 34 families of European descent with a family history of MS. The team looked for mutations in 132 MS patients, as well as non-affected relatives, using whole-exome sequencing — a technology that sequences only the part of the genome that actually generates proteins (called the exome).

By determining which genetic mutations were more likely to be present in individuals with MS, but not in unaffected individuals, researchers were able to identify 12 mutations tied to a greater likelihood of developing MS.

According to the team, the affected 12 genes — namely PLAUMASP1C2, NLRP12, UBR2CTNNA3NFATC2RNF213, NCOA3, KCNG4SLC24A6, and SLC8B1 — may provide clues about which biological processes are affected and may lead to MS.

“These genes are like a lighthouse illuminating where the root cause of MS is,” Carles Vilariño-Güell, PhD, co-author of the study, said in a press release.

The 12 genes identified in the analysis are involved in only a few biological pathways, most of which have known immunological and inflammatory roles. This suggests the disruption of these pathways may be the cause of MS, and might provide an avenue for exploring treatment strategies.

“We have treatments that address the symptoms of MS, but not the causes. People with MS take drugs that reduce the attacks, but the disease still progresses,” Vilariño-Güell said. “Now, with knowledge of these mutations, which suggest a common biological process that leads to increased inflammation in MS families, we can try to address the root causes.”

The researchers now plan to develop cell and animal models of these mutations in order to better understand how they might play a role in developing MS.

Marisa holds an MS in Cellular and Molecular Pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. She specializes in cancer biology, immunology, and genetics. Marisa began working with BioNews in 2018, and has written about science and health for SelfHacked and the Genetics Society of America. She also writes/composes musicals and coaches the University of Pittsburgh fencing club.
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Marisa holds an MS in Cellular and Molecular Pathology from the University of Pittsburgh, where she studied novel genetic drivers of ovarian cancer. She specializes in cancer biology, immunology, and genetics. Marisa began working with BioNews in 2018, and has written about science and health for SelfHacked and the Genetics Society of America. She also writes/composes musicals and coaches the University of Pittsburgh fencing club.
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    • Tammy Bowman says:

      I got ms following the initial hepatitis b vaccine. I break relapses with 150,000 units vitamin d per week, eggs and animal fat. Also many fresh fruits and vegetables. Almost no bread and no noodles. Best!

      • Susan says:

        My MS presented soon after having the Hep B series, as well! While I don’t think this vaccine, “gave me MS”, I do feel like it turned something on and and caused MS. I also know another person who’s sister shares a similar story. Coincidence? I have oftentimes wondered??

        • JJ says:

          That’s like saying Autism is caused by MMR immunizations. Does not happen that way. No more then Hep B. I am an RN and worked in research for years. No connection. Sorry guys. I have advanced MS and still searching for “why & how” . My medical MD thinks I got it as a result to immune system after having Polio. No one knows for sure. The most common symptom is an insults to immune system at some point in your life.

          • Jessica says:

            I have had MS for 9 years now. Some doctors that I have seen in the very beginning wonder if me having Mononucleosis twice is the cause of mine…. Who knows?

        • Bridget says:

          My daughter developed ADEM which is a sister to ms after her MMR vaccine. We used the us government thru the vaccine Compensation supreme court and won!!! Vaccines are not safe. Some take up to 8 months for a serious reaction. You can see it all on the CDC or National vaccine Compensation supreme court page. Our government keeps 3 billion in that account for all the injury. You can not sue vaccine companies. You have to sue the United States of America. Your own country. It can be done. They will try to break you. Took us 6 years the max they could take. I believe you!! I believe due to the stress of it all and a very sick child no one knew how to fix. I developed MS. Now we both fight doe our lives.

        • Cheryl says:

          I was also diagnosed after the hep B vaccine. I also have 2 sisters, multiple cousins, an uncle and great uncle with MS.

    • Patty says:

      My mother had MS passed away from the complications. My brother has MS now I am diagnosed with MS. My brother was diagnosed in his 40’s myself in my 50’s my mother in her 40’s.

    • C Scott says:

      My mother-in-law has MS, sister-in-law had MS, husband and son have MS and now my husband’s brother has a daughter that was just diagnosed. Grrrrr

    • Lisa says:

      I was shocked to find out that my first cousin had developed multiple sclerosis. That would be my mother’s sister’s child. Then I came down with it and then my first cousins daughter developed multiple sclerosis. But what was really strange is that my brother-in-law who is not related to me just by marriage developed multiple sclerosis. I was the first in the family and got no support still haven’t I want my brother-in-law came down with it everybody went crazy. No one believed me you look too good that was 10 years ago I don’t look so good now. The sad thing if it is is my brother-in-law who’s a good man has Progressive. I don’t understand why people I know are getting this. 12 years ago we bought a condo brand new moved in and that’s when I started getting symptoms. Now there are three people on my block very close to me that developed it also what is going on

      • Don Wiggins says:

        Fix your microbiota. Look it up. A doctor was wheelchair bound and fixed hers through diet. The progression CAN be stopped!
        Existing lesions can’t be fixed.

        • Tammy Bowman says:

          True! Stop bread, stop noodles. Make sure you have maximum tnfr2 ability. It seems that 150,000 units vitamin d corrects tnfr2 deficiencies. I eat eggs often for cholesterol which myelin is made of, animal fat too. Fresh fruits.

      • Linda Casaceli says:

        My mother and her seven sisters had rheumatoid arthritis which is autoimmune and hereditary. My sisters inherited severe rheumatoid arthritis. Both are deforming but one very bad. One of my sister’s with rheumatoid arthritis, her daughter inherited Lupus and so did my sister’s granddaughter from her other daughter. MS is autoimmune. I have progressive MS. Hereditary?

      • Christine says:

        I know how you feel. A out not looking like you have MS. For me you hav e to know me. My rt. Leg is weak. And i have bladder problems. Yrs past i had double vision in 1 eye. For 6 weeks. I see my ms dr. Get MRI’s. Im 71 and have had it for 45yrs. Sometimes i feel guilty. But not to much. It used to scare me yrs ago when i would attend ms meetings, and see them bring in
        Patients laying pn stretcher being brought in and wonder will this get that bad? God has been good to me.

    • Amandajj says:

      So sorry for you it’s an inhumane disease which I also suffer from it has put me down in a wheelchair. One foot in front of the other so to speak good luck with your journey 😊

    • Jennifer Baker says:

      It may. My sister has MS and I do. I have one 1st cousin that has MS. We are all on different levels of progression.

  1. Glynis Howarth says:

    I am contacting you as I suffer from RRMS.
    Two of my sisters also suffer this dreadful disease.
    I have four sister and one brother from the same parents.
    My M.S is cruel.
    We all live in Australia, we migrated from Britain in the early sixties.
    Myself I was nine years of age, my eldest sister who has m.s was 14yrs and
    The younger sister with m.s was six yrs of age.
    We are now in our later part of life these days as you can imagine.
    Two years I was comatosed and suffered a No Cardia Farina which
    Was abscesses in my brain caused by an m.s drug I was taking called Tecfidera.
    I had six brain operations, today I’m lucky to be alive but I often feel so weak that
    I am worsening at a fast rate.

    • Jody Cypelt says:

      Hey fellow Aussie! I’m in Perth and have RRMS also. We are built strong here, so keep fidgeting the good fight! We are the lucky ones though, even though we have MS. Our government supports our medical costs.

    • Cynthia King says:

      Hello. Some here are better, some are worse, but we all experience this disease that gives you something only to take it away the next day. I hope the worst of your medical trials are behind you and you are able to heal and find some peace of mind. Good luck to you.j

    • I have never heard of this connection between the ms drug Techfidera, which I have been on for 5 years, and this disease. Thank you for posting this information, and all the best to you in your battle for health.

      • Hilda Valovick says:

        Jill, I have RRMS & was on Tecfidera & more lesions appeared in my brain. My doctor took me off of it.I then was placed on Tysabri infusions.Now, I’m on a new drug,Ocrevus also through infusions. I’ll be taking it every 6mos. So far I’m feel good. Good luck to you.

    • Barbie harris says:

      I stopped tecfidara on my own and when my Dr tried to give me another oral med, I refused. I had staph (mrsa) three times in three months. I would take the injections again but he said no. I am not seeing a Neuro anymore. I’m deteriating faster now

    • Sarah Maxwell says:

      I’ve been taking Techfidera for 4/5 yrs. Dx with MS in 1998. The drug has helped me live a more stable life. Sorry for what happened to you.

    • Liz says:

      I’m so sorry to hear of the severity of your MS. I have taken Tecfidera. I could only tolerate the starter dose for 1 week. It made me feel worse than ever. I’m glad you survived the drug. These medications are so dangerous. I wonder, sometimes,if they are worth it.

  2. Katie Thomas says:

    My mom’s oldest sister had MS before ultimately passing away in 2014. Last year, my mom was diagnosed and just a month ago, I was diagnosed. My great uncle on my dad’s side also has MS and has been in a wheelchair since his 20’s. It definitely runs on both sides of my family. So far out my sisters, I’m the only one with MS. I’m hoping neither sister develops it.

    • Barbara Kidder says:

      Encourage them to take vit.D and eat lots of good salmon! Also, NOT to smoke and to keep their weight down…
      This will improve their health and put them in A favorable position, should they ever be diagnosed with MS…

  3. Boni Sue says:

    I am an identical twin, I am MS and my twin is very much like me symptom wise but has issues with getting tested. I worry for her on whether she has MS too.

  4. Ju says:

    I am an identical twin i have ms my twin does not my dad had ms and his two sisters my cousin and a great aunt all my dad side

  5. Amanda Baker says:

    I have no family history of MS. As far as I know, I’m the only one who has had it. Now I do worry for my daughter.

  6. Christopher says:

    Multiple sclerosis is the condition, but the disease itself could be a half dozen things or more. Some versions of MS don’t really have a congenital genetic component. So then what?

  7. Marjorie Whitehead says:

    I have RRMS I was diagnosed 2006, I don’t know anyone else in my family that have it . I have no children, but 1 sister .

  8. Wayne Henderson says:

    I am a 57yr old male who has became severely disabled with MS and had an aunt on my mother’s side who had MS. My son is 18yrs old and my worst fear is he or any future grandchildren could develop this nightmare disease. Please hurry with a cure.

  9. Bonnie Fergusson says:

    A low fat whole food plant based diet was shown many years ago to stop the progression of MS. Doesn’t cure it just stops it from getting worse over the years. Worth doing while they figure out a cure which is likely to take years if not decades. Make healthy choices so you are around for the cure. The high fat, high meat, low fruit and vegetable standard American diet is the worst option.

    • Susan says:

      I am too. Although arthritis runs in my family. I wonder if there could be a connection? My oldest daughter was just diagnosed with psuedotumor celibri. Excessive Fluid on her spine. My middle child was diagnosed with Hydrocephalas.. Fluid on her brain. My mother has RA. But Im the only one with MS. Im not taking any meds. I quit seeing the neuro as I felt they weren’t helping me. Infact I was told that I have sevear nerve damage but he wasn’t going to treat it because my insurance wouldn’t pay him enough. True story. He told me to manage my pain with ibuprofen. So I just go with it.. This fatigue is getting so much worse. Its getting harder to function most days and on the days I feel “good” I seem to over do everything like I’m superwoman and then down for 3 days in pain. Im so bloated.. Ive gained weight and its all fluid and swelling. I went from 140 lbs when diagnosed 5 years ago to 180 lbs. I get so fatigued from cramping all night .. Broken sleep that anxiety and depression sets in. Nobody in my family understands that this is real. They think Im just being lazy. I have fallen down..tripping on air..bouncing off walls esp. In the morning. Its a horrible disease. Ive lost so much.

    • Bill Bartholomew says:

      Obviously I cannot quote my neurologist;however she has assured me that there’s no proof that stem cells would lead to myelin repair

  10. Angela says:

    I am the first to be diagnosed with MS in my entire family. No history on either side of my parents. In fact I have never met anyone with MS. I was diagnosed with RRMS January 2019. So does this mean that I can pass it along going forward?

  11. Maria Zuniga says:

    I have MS but no one else in my family has it. I have 2 brothers and 2 sisters. I have 3 daughters and we have been asking questions but no one else has it mind you my parents are from Mexico

  12. Mer says:

    My brother, sister and I have MS. My brother enrolled in a trial in the late 70s. He was a progressive, so when he developed lymphoma at 71 years old he decided not to treat. He was so disabled and probably the treatment would have killed him so we all agreed with that decision.

  13. Betty Sulecki says:

    My dad’s sister had MS and now I have MS. I don’t think my daughter will get it. She is a clone of my husband’s side of the family. I actually worry more about my son.

    • Rose says:

      I have a niece who has MS and she was not diagnosed until later in life, 40.

      My response to your comment is in genetics, early-on, scientists were saying that genes followed patterns of the parents, like the male would get more of the male side in a genetic make up rather than from his mother, the female. In your case, this really blows that theory apart. If this is all coming from the male, father’s, side of the family.

      With my niece, I feel it may be the same way. I do believe she got this from the male contribution, her father’s side of the family. There’s no other known cases in my family, which would be her mother’s side of the family.

  14. Jenea Floyd says:

    My brother and I were both diagnosed in 2006. I have primary ms and my bro has relapsing ms. Our family has history of neurological disorders but not MS. Exercise and vitamin D I find help with the daily symptoms and overall health.

    • Rose says:

      I’ve done a lot of research involving this, MS; in doing so, I found copper destroys oligodendrocytes, the cells responsible for the myelin sheaths that surround axons in the CNS. I am still on the tip of this discovery, so I’ve not accumulated much information surrounding this. I did not make this discovery but found the information by reading so much about the brain and spine. I just took the information to the next level in piecing it all together.

      I research different sciences, but my main research lies in astrology. I have numerous files containing information on anatomy, astrology, chemical elements, chromosomes and genes, minerals and vitamins…

      My plight is to piece it all together.

  15. Linzee says:

    I believe you are looking in the wrong genome… MtDNA is the master. If your MtDNA is running like it should then the mutations found in the RNA/DNA stay silent and are not expressed.
    If you do select animals to study these mutations please do not use nocturnal. Circadian biology and MtDNA (mitochondrial) influence more than most realize, making studies done on mice irrelevant to humans. Unless you are just looking for another treatment and not an actual cure or prevention, then carry on.

  16. Hector manriquez says:

    I have MS for the last 12yrs Im a cook for more than 25 yrs 2 jobs ,non in my family have MS doctors say it’s because the way I live my life but ,I found a old lady gold medal in olimpic never drink or smoke, make your mind doctor’s it’s genetic or you really don’t know

  17. Carol Gordon says:

    My grandmother on my mothers side had MS. My two sisters,myself, my daughter and niece have been diagnosed with MS. Yes it does run in families!

  18. Lois Fanelli says:

    I have MS. No one else in my family as far back as we can go, has ever had it. However, even though I got this disease over 20 years ago, in the last five years, my two older sisters have developed fibromyalgia and my father had spinal stenosis. And my dad had things it seems like a mess to me but he was never tested for it. But auto immune disease certainly runs in our family!

  19. Lisa says:

    I was diagnosed with MS over 25 years ago.My father had MS, I just learned my fathers cousin has it. I pray my sisters won’t be affected by it.

  20. Kemp Fripp says:

    I have PPMS for the past 5 years (that I am aware) My oldest brother had MS 50 years ago (decided) Now, my other brother seems to be experiencing the same symptoms as me, but they say he doesn’t have MS ??

  21. Carol Trautt says:

    I wonder if my Mom and her sister were miss-diagnosed with Alzheimer’s..I have MS, and it’s well controlled with copaxone. (I was vaccinated in1982 with Heptavax which was given to Federal medical employees before it was given to the general population. It was made from the core protein of the actual virus.). I also had received vaccines for yellow
    Fever, eastern equine encephalitis, western equine encephalitis, and venuelan equine encephalitis in 1978. I have a positive ANA. I think that there are other contributing factors that start This disease. Genetics could play a roll.

  22. Mrs.Williams says:

    I developed MS after shot 3 of humaria. But before I started it I was assured by the leading MS Dr. in houston I didn’t have MS. Biologics and my genetics don’t mix , I guess.

  23. Chez says:

    MS in me, paternal female cousin and APBD, an ALS mimic in my sister who looked like she had ALS until APBD was confirmed on autopsy. There was mitochondrial disease as well. Neurological disease and thyroid disease run in siblings and paternal cousin.

  24. Cassidy says:

    You should follow the Wahls Protocol. The book explains why so many are developing MS and other chronic conditions.

  25. Kristie says:

    I was diagnosed with MS at the age of 42. I am the only known family member that has MS. I pray it’s not hereditary bc I have four children and I don’t want my kids to have to deal with this monster.

  26. L.Smith says:


  27. Elizabeth Parker says:

    I am supposedly the first ever in my family to develop MS. My first daughter also has it. My second daughter appears to have avoided it.

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