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Scientists identify genetic variation of NLRP1 gene in families with MS (07/07/17)

Researchers in Slovenia have identified a variation in the NLRP1 gene associated with multiple sclerosis (MS) that runs in families.

The team of scientists, led by Dr. Borut Peterlin of Ljubljana University Medical Center’s Clinical Institute of Medical Genetics, set out to identify any genes that were at play in both the MS and malignant melanoma that two siblings had. Although disease surveys indicated the two conditions can occur together, scientists had been unable to identify a shared cause for the two conditions.

Research has shown a link between a person’s susceptibility to malignant melanoma and a mutation of the NLRP1 gene. More recent studies have indicated that NLRP1 plays a role in the development of malignant melanoma.

The scientists evaluated the association between an NLRP1 mutation and MS in two groups. One consisted of 38 people with MS whose disease ran in the family. The second group consisted of 44 people with MS whose disease did not run in their family.

A connection between the mutation and MS that runs in families was identified. The mutation affects the function of the protein the gene generates, a protein known to be involved in inflammatory processes.

Other NLRP1 mutations in patients with and without a family history of MS were also identified. The researchers believe that these mutations could be involved in the development of the disease.

The team also identified a connection between MS associated with NLRP1 mutations and the development of malignant melanoma. That evidence involved immune responses to the two conditions.

The team concluded that there is an association between MS running in families and malignant melanoma, and the genetic link between the two conditions may be the NLRP1 gene mutation.

Further research is now needed, but the scientists believe that if they can find a way to lower the increased production of IL-1β that NLRP1 mutations trigger, they may be able to develop a new treatment for MS.

This study, “Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis,” was published in the journal, Scientific Reports. 

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