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.

• Authors: 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, ITALSGEN, Carsten Drepper, Michael Sendtner, Andrew B Singleton, J Paul Taylor, Mark R Cookson, Gabriella Restagno, Mario Sabatelli, Robert Bowser, Adriano Chiò, Bryan J Traynor
• Journal: Nature neuroscience (Nat Neurosci) Vol. 17 Issue 5 Pg. 664-666 (May 2014) ISSN: 1546-1726 [Electronic] United States
• PMID: 24686783 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• DNA-Binding Proteins
• MATR3 protein, human
• Nuclear Matrix-Associated Proteins
• RNA-Binding Proteins

Topics

• Aged
• Aged, 80 and over
• Amyotrophic Lateral Sclerosis (genetics, pathology)
• Computational Biology
• DNA Mutational Analysis
• DNA-Binding Proteins (metabolism)
• Family Health
• Female
• Genetic Predisposition to Disease (genetics)
• Genotype
• Humans
• Male
• Middle Aged
• Muscle, Skeletal (metabolism, pathology)
• Mutation (genetics)
• Neurologic Examination
• Nuclear Matrix-Associated Proteins (genetics, metabolism)
• RNA-Binding Proteins (genetics, metabolism)
• Spinal Cord (metabolism, pathology)