Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
Nature neuroscience, 2014•nature.com
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.
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.
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.
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