Gene Mutation in MS Sheds Light on Movement, Balance Disorders

Excessive inflammation that is present in multiple sclerosis (MS) may be due to a malfunctioning “brake” within immune cells to control the inflammation, researchers presented. Results of the study are published in Immunity.

Researchers from the University of Virginia School of Medicine discovered that a mutation in the gene Nlrp12 was causing T-cells to to malfunction by provoking severe inflammation. The inflammation did not cause exacerbated ascending paralysis often seen with multiple sclerosis. Rather, it resulted in ataxia and loss of balance. The team observed that Nlrp12−/− mice responded to antigen immunization with hyperinflammatory T-cell responses. In addition, the transfer of CD4+CD45RBhi Nlrp12−/− T-cells into immunodeficient mice resulted in more severe colitis and atopic dermatitis.

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Study findings may lead to a target for future therapies in controlling the inflammation. It may also have clinical implications for other autoimmune diseases like colitis and atopic dermatitis, researchers concluded.

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