Structural variants may be a source of missing heritability in sALS

F. Theunissen; L.L. Flynn; R.S. Anderton; F. Mastaglia; J. Pytte; L. Jiang; S. Hodgetts; D.K. Burns; A. Saunders; S. Fletcher; S.D. Wilton; P.A. Akkari

doi:10.3389/fnins.2020.00047

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Structural variants may be a source of missing heritability in sALS

Journal article

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Structural variants may be a source of missing heritability in sALS

F. Theunissen, L.L. Flynn, R.S. Anderton, F. Mastaglia, J. Pytte, L. Jiang, S. Hodgetts, D.K. Burns, A. Saunders, S. Fletcher, …

Frontiers in Neuroscience, Vol.14

2020

DOI: https://doi.org/10.3389/fnins.2020.00047

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Abstract

The underlying genetic and molecular mechanisms that drive amyotrophic lateral sclerosis (ALS) remain poorly understood. Structural variants within the genome can play a significant role in neurodegenerative disease risk, such as the repeat expansion in C9orf72 and the tri-nucleotide repeat in ATXN2, both of which are associated with familial and sporadic ALS. Many such structural variants reside in uncharacterized regions of the human genome, and have been under studied. Therefore, characterization of structural variants located in and around genes associated with ALS could provide insight into disease pathogenesis, and lead to the discovery of highly informative genetic tools for stratification in clinical trials. Such genomic variants may provide a deeper understanding of how gene expression can affect disease etiology, disease severity and trajectory, patient response to treatment, and may hold the key to understanding the genetics of sporadic ALS. This article outlines the current understanding of amyotrophic lateral sclerosis genetics and how structural variations may underpin some of the missing heritability of this disease.

Details

Title: Structural variants may be a source of missing heritability in sALS
Authors/Creators: F. Theunissen (Author/Creator) - Perron Institute for Neurological and Translational Science
L.L. Flynn (Author/Creator) - Murdoch University
R.S. Anderton (Author/Creator) - The University of Western Australia
F. Mastaglia (Author/Creator) - The University of Western Australia
J. Pytte (Author/Creator) - The University of Western Australia
L. Jiang (Author/Creator) - The University of Western Australia
S. Hodgetts (Author/Creator) - The University of Western Australia
D.K. Burns (Author/Creator) - Zinfandel Pharmaceuticals, Chapel Hill, NC, United States.
A. Saunders (Author/Creator) - Zinfandel Pharmaceuticals, Chapel Hill, NC, United States.
S. Fletcher (Author/Creator) - The University of Western Australia
S.D. Wilton (Author/Creator) - Murdoch University
P.A. Akkari (Author/Creator) - Murdoch University
Publication Details: Frontiers in Neuroscience, Vol.14
Publisher: Frontiers
Identifiers: 991005544320007891
Murdoch Affiliation: Centre for Molecular Medicine and Innovative Therapeutics
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.765 ALS Mechanisms
Web Of Science research areas: Neurosciences
ESI research areas: Neuroscience & Behavior