Researchers Find Gene Mutation in Multiple Sclerosis That Runs in Families

Researchers Find Gene Mutation in Multiple Sclerosis That Runs in Families

A variation in the NLRP1 gene is associated with multiple sclerosis that runs in families, Slovenian researchers report.

Their study, “Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis,” was published in the journal Scientific Reports. The research was led by Dr. Borut Peterlin of Ljubljana University Medical Center’s Clinical Institute of Medical Genetics.

Scientists believe MS arises from a combination of a person’s genetic background and the environment. Although previous studies have suggested that genes are behind MS that runs in families, researchers had yet to confirm that hypothesis.

The Slovenian team wanted to identify any genes that were at play in both the MS and malignant melanoma that two siblings had. Although disease surveys indicate the two conditions can occur together, scientists had been unable to identify a shared cause for the two conditions.

Interestingly, research has shown a link between a person’s susceptibility to MM and a mutation of the NLRP1 gene. And recent studies have indicated that NLRP1 plays a role in the development of MM.

The Slovenian team decided to evaluate the association between an NLRP1 mutation and multiple sclerosis in two groups. One consisted of 38 people with MS whose disease ran in the family. The other was 44 people with MS whose disease did not run in their family.

Researchers used genomic, molecular biology and immunology measurements to decide whether there was a link between the mutation and MS.

They found a connection between the mutation and MS that runs in families. The mutation affects the function of the protein the gene generates — a protein known to be involved in inflammatory processes.

Researchers also found other NLRP1 mutations in patients with and without a family history of MS that they believe could be involved in the development of the disease.

In addition, the team found evidence of a connection between MS associated with NLRP1 mutations and the development of MM. That evidence involved immune responses to the two conditions.

Stimulating the production of immune-system components known as peripheral blood mononuclear cells, or PBMCs, triggered immune responses in MS patients with NLRP1 mutations. The responses included increased production of the pro-inflammatory cytokine IL-1β. Higher levels of that protein have been found in MM tissue.

PBMCs include such immune cells as lymphocytes, monocytes, and macrophages.

“IL-1β has been implicated in a variety of inflammatory and neurodegenerative processes occurring in MS,” the researchers wrote.

Overall, the findings demonstrated an association between MS running in families and MM, they said. And the genetic link between the two may be the NLRP1 gene mutation, they added.

The team said scientists might be able to develop a treatment for MS by finding a way to lower the increased production of IL-1β that NLRP1 mutations trigger.

José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has studied Biochemistry also at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario, in London, Ontario. His work ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has studied Biochemistry also at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario, in London, Ontario. His work ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.
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11 comments

  1. Hello, my oldest sister was diagnosed with Multiple Sclerosis when she was 23. She is now 48, under the care of Hospice as she’s in the final stages. My oldest brother, was diagnosed with Multiple Sclerosis at the age of 36. He is now 49 and not well. I am the youngest of the five siblings. At the age of 25, I was officially diagnosed with Multiple Sclerosis after years of not one doctor taking my medical issues seriously. I was told, I wanted to be like my sister and brother who had MS! The doctors were correct, it was in my head. My MRI showed over 40 lesions on my brain. They occurred within one year. I am 37 now and the three of us all have very different symptoms of MS. Harvard contacted me to do a study on my family; unfortunately, they needed my sister to be of better health for the longevity of their study. UCLA contacted me in 2011 and in 2013 used my family to assist finding the gene associated in MS. Everyone in my family was genetically tested, including both my parents and other brother and sister with whom don’t have MS. At the same, my family just found out another family member, a cousin on my Dad’s side was just diagnosed with MS. I have been living with the reality of how MS takes away one’s dignity since I was 12 years old. Things have changed now that I am 37 years old, but one thing remains. MS is not the same with everyone and the brain and spinal cord are an unperfected science. Sadly, too many doctors treat those with what they don’t understand like freaks and hypochondriacs. If my family and I can be of assistance to further help science to find out the cause of MS, please contact me. It is my goal that no child, sibling, mother or father would have to grow up and live the devastating life we have lived. Thank you for listening and thank you for continuing to research.

    • Donna says:

      BLESS YOUR FAMILIES HEART.
      My dad’s side of the family is the closest to me having MS with his grandfather having dementia and my dad and his siblings all having a form of neurological issues. I believe we all share some sort of MS gene.
      I’ll keep your whole family in my prayers.

    • Ryan says:

      The link below is worth checking out. I know people who have stopped their meds. I haven’t had a relapse in 5 years since adopting this mindset (wasn’t easy) and hope to stop my my medication as well soon. Everyone’s MS is different, but it’s worth a go, I promise!

      https://youtu.be/KLjgBLwH3Wc

    • Kim M says:

      Georgette, I understand and share your grief and frustration. Both of my teens were diagnosed with MS in 2014…with my daughter being undiagnosed since age 13. I understand it’s a mysterious disease still it is hard to see your child suffer. I pray a cure quickly for all with MS.

    • I am reading your story today and I am completely shocked. My mother had ms, she was diagnosed at 26 yrs and passed away at 51 years old. I just found out my cousin who is a male has the disease. I was told this does not run in families. I am now worried I have children. I hope you are doing well. God bless you and your entire family.

    • Suzy says:

      I know this is an old post, but I feel for you and your family.. My mom passed at 51 yrs after battling MS for about 25 yrs and now I just found out my cousin has it. I have kids and I am worried about this terrible disease. It strips away everything. god bless you if you ever need to talk , I will listen!

  2. Pauline Walter says:

    Myself has multiple sclerosis I was diagnosed first then my older sister was diagnosed then my grandson was diagnosed then my brother was diagnosed and we all have different symptoms that mine and my sisters are pretty much the same it’s terrible

  3. L M. SansSouci says:

    My mother, I and my oldest daugher all have MS. My mother was the first in the family to some down with it. I have learned recently that she had scarlet fever and diphtheria at the same time when she was a child (early 1920’s). Perhaps that was the trigger. I also recently learned that she was diagnosed with a “nervous breakdown” and given electroshock treatment. Unfortunately, she died at age 52 in a nursing home. I, on the other hand, started having symptoms at age 38 and still managed to work until retirement at age 64. I am 74 now and just had a relapse after 15 years without one. I used Avonex for 15 years. My daughter, now age 50, has been in a nursing home now for almost 2 years. So, we all have experienced the disease differently. For what it’s worth, my Mom and daughter were both born in April, and had similar personalities. I am an October birth. Any correlation? Who knows?

  4. terry mechan says:

    New Out and now available for listening or download.
    The Man that Beat MS
    http://www.terrymechan.com/ms
    Over 3 million people worldwide have Multiple Sclerosis and the odds are you might know someone yourself.
    So this is the story of Patient Zero who put himself through a radical new stem cell treatment, using his own blood, in an attempt to rid himself of MS
    The radical treatment involved taking extreme risks but there was the promise of a lifetime free from the disease.
    We hear, in his own words, what they did to him and whether it worked.
    We also hear from Dr Paulo Murraro of Imperial College London who is a world expert in the causes and treatment of MS
    He tells up what he believes causes MS and how the stem cell treatment is supposed to work.

  5. James Lee says:

    My dad had MS and died from complications of it at age 55. He had symptoms of it while in college. His sister had it. She lived to be 70. My little sister as it. And two years ago I was diagnosed with it. Go figure. I was diagnosed with Crohn’s two years before that. I’m convinced I’ve had MS so much longer than two years. It’s easier to piece together the puzzle after the fact. Both my sister and I are on Aubagio, which costs $20,000.00 for 88 tablets. Last year Aetna had it on their formulary, but this year they don’t. I’m disabled (something I never dreamed would happen to me) and can ill afford that kind of money, and neither can my disabled sister. The grant foundation money helped with my meds for the first of the year, but unfortunately there are no funds in any of the programs now. You do what you have to do, I suppose. I’ll have to give up medicine if I have to pay $20,000.00 for 88 tablets. C’est la vive.

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