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Cited by 40Amyotrophic Lateral Sclerosis ResearchHereditary Neurological DisordersAlzheimer's disease research and treatments

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Amyotrophic lateral sclerosis: recent genetic highlights

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White, Matthew A., Sreedharan, Jemeen·2016·Current Opinion in Neurology
DOI 10.1097/wco.0000000000000367
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Abstract

Purpose of review: Amyotrophic lateral sclerosis (ALS), like other neurodegenerative diseases, remains incurable, but gene mutations linked to ALS are providing clues as to how to target therapies. It is important for researchers to keep abreast of the rapid influx of new data in ALS, and we aim to summarize the major genetic advances made in the field over the past 2 years. Recent findings: Significant variation in seven genes has recently been found in ALS: TBK1, CCNF, GLE1, MATR3, TUBA4A, CHCHD10 and NEK1. These have mostly been identified through large exome screening studies, though traditional linkage approaches and candidate gene screening remain important. We briefly update C9orf72 research, noting in particular the development of reagents to better understand the normal role of C9orf72 protein. Summary: Striking advances in our understanding of the genetic heterogeneity of ALS continue to be made, year on year. These implicate proteostasis, RNA export, nuclear transport, the cytoskeleton, mitochondrial function, the cell cycle and DNA repair. Functional studies to integrate these hits are needed. By building a web of knowledge with interlinked genes and mechanisms, it is hoped we can better understand ALS and work toward effective therapies.

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Metadata

Authors
White, M. A., & Sreedharan, J.
Affiliations
Babraham Institute (GB)
Corresponding author
Sreedharan, Jemeen
ORCID
Venue
Current Opinion in Neurology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2016-10
Volume
29
Issue
5
Pages
557-564
ISSN
  • 1350-7540 (ISSN-L)
  • 1473-6551
DOI
10.1097/wco.0000000000000367
OpenAlex
W2507986567
Cited by
40
References
11
Citations by year
2025: 1 · 2022: 3 · 2021: 3 · 2020: 5 · 2019: 8 · 2018: 11 · 2017: 7 · 2016: 1
FWCI
1.25
Type
journal article
Language
en
Open access
Licence
Locations
  • Current Opinion in Neurology (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Research Portal (King's College London) (publishedVersion, cc-by)
Funders
  • Motor Neurone Disease Association (Sreedharan/Jan13/943-795)
  • Medical Research Council (MR/K010611/1)
Topics
  • Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Keywords
amyotrophic lateral sclerosis, genetic heterogeneity, genetic mutations, TBK1, cyclin F, Gle1, MATR3, TUBA4A, CHCHD10, NEK1, C9orf72, proteostasis, RNA export, nuclear transport, cytoskeleton, mitochondrial function, cell cycle, DNA repair, neurodegeneration
MeSH terms
C9orf72 Protein, Amyotrophic Lateral Sclerosis, Humans, Mitochondria, Mutation, RNA, Genetic Therapy, Exome

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