Scientists note that association between TDP-43 variant and disease was made based on a small family in an Annals of Neurology paper.

Scientists associated a mutation in a gene known as TDP-43 to familial amyotrophic lateral sclerosis (ALS). The gene has previously been shown to influence mRNA splicing.

Abnormalities in the related protein, which have been found in both sporadic and inherited ALS, have included altered folding and phosphorylation, both of which can radically change its function. 

In the current study, the scientists found that every member of a family affected by an inherited form of ALS had a particular mutation in TDP-43. Next, they looked at 1,505 people not related to the family and unaffected by ALS. This second search found no examples of the same mutation. Because the family they studied was small, they say that further evidence is required to confirm that the mutation is causing ALS.

“The potential link to sporadic ALS is particularly interesting,” notes senior author, Nigel Cairns, Ph.D., research associate professor of neurology and pathology and immunology at the Washington University School of Medicine. “If we can confirm TDP-43’s association with inherited ALS, mutating this gene may give us a way to model sporadic ALS in laboratory animals for the first time.”

The research was conducted by investigators at Washington University School of Medicine, University of Texas Southwestern Medical School, Northwestern University Feinberg School of Medicine, Mayo Clinic Scottsdale, and Mayo Clinic Jacksonville. The study appeared on February 20 in Annals of Neurology.

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