Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

doi:10.1016/j.neurobiolaging.2015.09.013

. 2016 Jan:37:209.e17-209.e21.

doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Claire S Leblond¹, Ziv Gan-Or¹, Dan Spiegelman², Sandra B Laurent², Anna Szuto², Alan Hodgkinson³, Alexandre Dionne-Laporte², Pierre Provencher⁴, Mamede de Carvalho⁵, Sandro Orrù⁶, Denis Brunet⁷, Jean-Pierre Bouchard⁷, Philip Awadalla⁸, Nicolas Dupré⁷, Patrick A Dion², Guy A Rouleau⁹

Affiliations

¹ Department of Human Genetics, McGill University, Montreal, Québec, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada.
² Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.
³ Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada.
⁴ Department of Medicine, University of Laval, Quebec City, Québec, Canada.
⁵ Faculty of Medicine, Department of Neurosciences, University of Lisbon, Hospital de Santa Maria-CHLN, Lisbon, Portugal.
⁶ Medical Genetics, Department of Medical Sciences, University of Cagliari, Cagliari, Italy.
⁷ Department of Medicine, University of Laval, Quebec City, Québec, Canada; Neuromuscular and Neurogenetic Disease Clinic, Centre Hospitalier Universitaire de Québec, Quebec City, Québec, Canada.
⁸ Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada; Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
⁹ Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada. Electronic address: guy.rouleau@mcgill.ca.

PMID: 26493020
DOI: 10.1016/j.neurobiolaging.2015.09.013

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

Claire S Leblond et al. Neurobiol Aging. 2016 Jan.

. 2016 Jan:37:209.e17-209.e21.

doi: 10.1016/j.neurobiolaging.2015.09.013. Epub 2015 Sep 28.

Authors

Affiliations

¹ Department of Human Genetics, McGill University, Montreal, Québec, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada.
² Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada.
³ Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada.
⁴ Department of Medicine, University of Laval, Quebec City, Québec, Canada.
⁵ Faculty of Medicine, Department of Neurosciences, University of Lisbon, Hospital de Santa Maria-CHLN, Lisbon, Portugal.
⁶ Medical Genetics, Department of Medical Sciences, University of Cagliari, Cagliari, Italy.
⁷ Department of Medicine, University of Laval, Quebec City, Québec, Canada; Neuromuscular and Neurogenetic Disease Clinic, Centre Hospitalier Universitaire de Québec, Quebec City, Québec, Canada.
⁸ Department of Pediatrics, Faculty of Medicine, University of Montreal, Montreal, Québec, Canada; Ontario Institute for Cancer Research, Toronto, Ontario, Canada.
⁹ Montreal Neurological Institute and Hospital, McGill University, Montreal, Québec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Québec, Canada. Electronic address: guy.rouleau@mcgill.ca.

PMID: 26493020
DOI: 10.1016/j.neurobiolaging.2015.09.013

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by an extensive loss of motor neurons in the primary motor cortex, brainstem, and spinal cord. Genetic studies report a high heritability of ALS. Recently, whole-exome sequencing analysis of familial ALS (FALS) patients allowed the identification of missense variations within the MATR3 gene. MATR3 was previously associated to distal myopathy 2 and encodes for a nuclear matrix and DNA/RNA binding protein that has been shown to interact with TDP43 in an RNA-dependent manner. Here, we assessed the MATR3 mutation frequency in French-Canadian ALS and control individuals (nFALS = 83, sporadic ALS [nSALS] = 164, and ncontrols = 162) and showed that MATR3 mutations were found in 0%, 1.8%, and 0% of FALS, SALS, and controls, respectively. Interestingly, among the mutations identified in SALS, the splicing mutation c.48+1G>T was found to result in the insertion of 24 amino acids in MATR3 protein. These findings further support the role of MATR3 in ALS, and more studies are needed to shed more light on MATR3 proteinopathy.

Keywords: Amyotrophic lateral sclerosis; French-Canadian population; Genetic mutation; Matrin-3; Nuclear matrix protein and DNA/RNA binding protein.

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Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

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Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

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