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

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

Nature neuroscience (2014-04-02)

Janel O Johnson, Erik P Pioro, Ashley Boehringer, Ruth Chia, Howard Feit, Alan E Renton, Hannah A Pliner, Yevgeniya Abramzon, Giuseppe Marangi, Brett J Winborn, J Raphael Gibbs, Michael A Nalls, Sarah Morgan, Maryam Shoai, John Hardy, Alan Pittman, Richard W Orrell, Andrea Malaspina, Katie C Sidle, Pietro Fratta, Matthew B Harms, Robert H Baloh, Alan Pestronk, Conrad C Weihl, Ekaterina Rogaeva, Lorne Zinman, Vivian E Drory, Giuseppe Borghero, Gabriele Mora, Andrea Calvo, Jeffrey D Rothstein, Carsten Drepper, Michael Sendtner, Andrew B Singleton, J Paul Taylor, Mark R Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J Traynor

PMID24686783

摘要

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.