Matrin 3: New Genetic Mutation Further Implicates RNA Processing Defects in ALS

A new ALS-associated genetic mutation has been identified, further implicating defects in RNA processing in ALS disease pathology. The study, published on March 30th online in Nature Neuroscience from Bryan Traynor’s group at the National Institute of Aging and Adriano Chio’s group at the University of Turin, Italy, identified mutations in the Matrin 3 (MATR3) gene in two families suffering from ALS and dementia. The mutation was also identified in one case of sporadic ALS. The investigation revealed that MATR3, an RNA and DNA-binding protein that is important for RNA processing, binds another ALS-associated protein, TDP-43, and the mutation affects its ability to bind TDP-43. Interestingly, MATR3 pathology was found even in the spinal cord of ALS patients without MATR3 mutations. Exome sequencing data from the study have been made publicly available. Click here to read more.

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