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Nat Neurosci. 2014 May;17(5):664-666. doi: 10.1038/nn.3688. Epub 2014 Mar 30.

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

Author information

1
Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA.
2
Department of Neurology, Neurological Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA.
3
Division of Neurology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ 85013, USA.
4
Cell Biology and Gene Expression Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA.
5
Department of Neurology, Henry Ford Hospital, Detroit, MI 48202, USA.
6
Institute of Medical Genetics, Catholic University of Sacred Heart, 10100 Rome, Italy.
7
Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
8
Computational Biology Core, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
9
Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
10
Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.
11
Department of Clinical Neuroscience, Institute of Neurology, University College London, London NW3 2PG, UK.
12
Centre for Neuroscience and Trauma, Blizard Institute, Queen Mary University of London, North-East London and Essex Regional MND Care Centre, E1 2AT, UK.
13
Department of Neurodegenerative Disease, University College London, Queen Square, London WC1N 3BG, UK.
14
Department of Neurology, Washington University School of Medicine, 660 South Euclid Avenue, St. Louis, Missouri 63110, USA.
15
Department of Neurology, Cedars-Sinai Medical Center, 8730 Alden Drive, Los Angeles, CA 90048, USA.
16
Tanz Centre for Research of Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON, M5S 3H2, Canada.
17
Division of Neurology, Department of Internal Medicine, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, ON, M4N 3M5, Canada.
18
Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.
19
Department of Neurology, Azienda Universitaria-Ospedaliera di Cagliari and University of Cagliari, Cagliari, Italy.
20
ALS Center, Salvatore Maugeri Foundation, Milan, Italy.
21
'Rita Levi Montalcini' Department of Neuroscience, University of Turin, 10126 Turin, Italy.
22
Brain Science Institute and Department of Neurology, Johns Hopkins Hospital, 855 N. Wolfe Street, Baltimore, MD 21205, USA.
23
Institute for Clinical Neurobiology, University of Würzburg, D-97078 Würzburg, Germany.
24
Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Würzburg, D-97080 Würzburg, Germany.
25
Molecular Genetics Unit, Department of Clinical Pathology, A.S.O. O.I.R.M.-S. Anna, 10126 Turin, Italy.
26
Neurological Institute, Catholic University and I.C.O.M.M. Association for ALS Research, 10100 Rome, Italy.
#
Contributed equally

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.

PMID:
24686783
PMCID:
PMC4000579
DOI:
10.1038/nn.3688
[Indexed for MEDLINE]
Free PMC Article

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