Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3.

Details

Ressource 1Request a copy Under embargo until 04/04/2025.
UNIL restricted access
State: Public
Version: Author's accepted manuscript
License: CC BY-NC-ND 4.0
Serval ID
serval:BIB_A091BCE879C9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Gene editing as a therapeutic strategy for spinocerebellar ataxia type-3.
Journal
Revue neurologique
Author(s)
Déglon N.
ISSN
0035-3787 (Print)
ISSN-L
0035-3787
Publication state
Published
Issued date
04/04/2024
Peer-reviewed
Oui
Volume
180
Number
5
Pages
378-382
Language
english
Notes
Publication types: Journal Article ; Review
Publication Status: aheadofprint
Abstract
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is a neurodegenerative disease caused by expanded polyglutamine repeats in exon 10 of the ataxin-3 gene, ATXN3. The accumulation of mutant ATXN3 protein leads to severe clinical manifestations and premature death. Clinically, SCA3 pathology is characterized by progressive ataxia leading to motor incoordination that may affect balance, gait and speech, and neuropathologically by a progressive degeneration of the spinal cord and cerebellum, as well as the cerebral cortex and basal ganglia. Although SCA3 is a rare disease, it is the most common autosomal dominant spinocerebellar ataxia worldwide. Its geographical distribution varies worldwide, with peak prevalence in certain regions of Brazil, Portugal and China. In 1994, the identification of the polyglutamine expansion in the ATXN3 gene made it possible not only to diagnose this pathology but also to dissect the mechanisms leading to cellular degeneration. As a monogenic disease for which only symptomatic treatment is available, the ATXN3 gene represents an attractive therapeutic target for gene editing strategies.
Keywords
Neurology (clinical), Neurology, Adeno-associated vectors, CRISPR/Cas9, Central nervous system, Gene editing, Gene therapy, Spinocerebellar ataxia type-3
Pubmed
Open Access
Yes
Create date
09/04/2024 14:14
Last modification date
15/06/2024 7:03
Usage data