Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.
Journal
Nature reviews. Genetics
ISSN: 1471-0064
Titre abrégé: Nat Rev Genet
Pays: England
ID NLM: 100962779
Informations de publication
Date de publication:
09 2023
09 2023
Historique:
accepted:
23
02
2023
pmc-release:
01
09
2024
medline:
23
10
2023
pubmed:
7
4
2023
entrez:
6
4
2023
Statut:
ppublish
Résumé
Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. We also propose a high-level model to synthesize the interdependent effects of genetics, environmental and lifestyle factors, and ageing into a unified theory of ALS. Furthermore, we summarize the current status of therapies developed on the basis of genetic knowledge established for ALS over the past 30 years, and we discuss how developing treatments for ALS will advance our understanding of targeting other neurological diseases.
Identifiants
pubmed: 37024676
doi: 10.1038/s41576-023-00592-y
pii: 10.1038/s41576-023-00592-y
pmc: PMC10611979
mid: NIHMS1938894
doi:
Types de publication
Journal Article
Review
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
642-658Subventions
Organisme : Intramural NIH HHS
ID : Z01 AG000949
Pays : United States
Organisme : Intramural NIH HHS
ID : Z99 AG999999
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA AG000933
Pays : United States
Informations de copyright
© 2023. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.
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