Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis.

ABSTRACT: MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Using exome sequencing, we identified mutations in MATR3 in ALS kindreds. We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration.

SUBMITTER: Johnson JO 

PROVIDER: S-EPMC4000579 | biostudies-literature | 2014 May

REPOSITORIES: biostudies-literature