Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Jennifer A Fifita; Kelly L Williams; Emily P McCann; Aidan O'Brien; Denis C Bauer; Garth A Nicholson; Ian P Blair

doi:10.1016/j.neurobiolaging.2014.11.010

Mutation analysis of MATR3 in Australian familial amyotrophic lateral sclerosis

Neurobiol Aging. 2015 Mar;36(3):1602.e1-2. doi: 10.1016/j.neurobiolaging.2014.11.010. Epub 2014 Nov 20.

Authors

Jennifer A Fifita¹, Kelly L Williams¹, Emily P McCann¹, Aidan O'Brien², Denis C Bauer², Garth A Nicholson³, Ian P Blair⁴

Affiliations

¹ Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia.
² Digital Productivity, Commonwealth Scientific and Industrial Research Organization, Sydney, New South Wales, Australia.
³ Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia; Molecular Medicine Laboratory, Concord Hospital, Concord, New South Wales, Australia.
⁴ Australian School of Advanced Medicine, Faculty of Medicine & Health Sciences, Macquarie University, Sydney, New South Wales, Australia. Electronic address: [email protected].

PMID: 25523636
DOI: 10.1016/j.neurobiolaging.2014.11.010

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that arises from the progressive degeneration of the motor neurons. Recently, mutations in the matrin 3 (MATR3) gene were described in both ALS and autosomal dominant distal myopathy with vocal cord and pharyngeal weakness. We sought to determine the prevalence of MATR3 mutations in Australian familial ALS (n = 106) using whole exome sequencing. No mutations were identified, indicating that MATR3 mutations are not a common cause of ALS in Australian familial cases with predominately European ancestry.

Keywords: Amyotrophic lateral sclerosis; Gene; Matrin 3; Mutation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amyotrophic Lateral Sclerosis / genetics*
Australia
Cohort Studies
DNA Mutational Analysis*
Disease Progression
Genetic Association Studies*
Humans
Mutation / genetics*
Nuclear Matrix-Associated Proteins / genetics*
RNA-Binding Proteins / genetics*
White People / genetics

Substances

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