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.


  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:

      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!

    • 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.

  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:

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    He tells up what he believes causes MS and how the stem cell treatment is supposed to work.

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