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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis
Neurobiology of Aging, Volume 37, Year 2016
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Description
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. © 2016 Elsevier Inc.
Authors & Co-Authors
Leblond, Claire S.
Canada, Montreal
Université Mcgill
Gan-Or, Ziv
Canada, Montreal
Université Mcgill
Spiegelman, Dan
Canada, Montreal
Université Mcgill
Laurent, Sandra B.
Canada, Montreal
Université Mcgill
Szuto, Anna
Canada, Montreal
Université Mcgill
Hodgkinson, Alan J.
Canada, Montreal
University of Montreal
DIonne-Laporte, Alexandre
Canada, Montreal
Université Mcgill
De Carvalho, Mamede Alves
Portugal, Lisbon
Santa Maria Hospital, Lisbon
Orrù, Sandro
Italy, Cagliari
Università Degli Studi Di Cagliari
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Canada, Quebec
Chu de Québec-université Laval
Awadalla, Philip
Canada, Montreal
University of Montreal
Canada, Toronto
Ontario Institute for Cancer Research
Dupré, Nicolas
Canada, Quebec
Université Laval
Canada, Quebec
Chu de Québec-université Laval
Dion, Patrick A.
Canada, Montreal
Université Mcgill
Rouleau, Guy Armand
Canada, Montreal
Université Mcgill
Statistics
Citations: 49
Authors: 14
Affiliations: 7
Identifiers
Doi:
10.1016/j.neurobiolaging.2015.09.013
ISSN:
01974580
Research Areas
Cancer
Genetics And Genomics