Journal article
Structural variants may be a source of missing heritability in sALS
Frontiers in Neuroscience, Vol.14
2020
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 ScienceL.L. Flynn (Author/Creator) - Murdoch UniversityR.S. Anderton (Author/Creator) - The University of Western AustraliaF. Mastaglia (Author/Creator) - The University of Western AustraliaJ. Pytte (Author/Creator) - The University of Western AustraliaL. Jiang (Author/Creator) - The University of Western AustraliaS. Hodgetts (Author/Creator) - The University of Western AustraliaD.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 AustraliaS.D. Wilton (Author/Creator) - Murdoch UniversityP.A. Akkari (Author/Creator) - Murdoch University
- Publication Details
- Frontiers in Neuroscience, Vol.14
- Publisher
- Frontiers
- Identifiers
- 991005544320007891
- Copyright
- © 2020 The Author(s).
- 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