- VernacularTitle:自吞噬途径参与降解多聚谷氨酰胺扩展突变型ataxin-3
- Author:
Han XIAO
1
;
Jianguang TANG
;
Zhiping HU
;
Jieqiong TAN
;
Beisha TANG
;
Zheng JIANG
Author Information
- Publication Type:Journal Article
- MeSH: Ataxin-3; Autophagy; Cell Line; Humans; Machado-Joseph Disease; genetics; metabolism; physiopathology; Mutation; Nerve Tissue Proteins; genetics; metabolism; Nuclear Proteins; genetics; metabolism; Peptides; metabolism; Repressor Proteins; genetics; metabolism
- From: Chinese Journal of Medical Genetics 2010;27(1):23-28
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the role of autophagy on the pathogenesis of spinocerebellar ataxia 3/Machado-Joseph disease (SCA3/MJD).
METHODSHEK293 cells expressing polyglutamine-expanded ataxin-3 were used as cell model for SCA3/MJD. The level of polyglutamine-expanded ataxin-3 was detected after cells were treated with different inhibitors or inducer of autophagy.
RESULTSInhibition of autophagy increased aggregate formation and cell death in HEK293 cells expressing mutated ataxin-3, and vice versa.
CONCLUSIONThe data suggested that autophagy is involved in the degradation of mutant ataxin-3, resulting in a decrease in the proportions of aggregate-containing cells and cell death in HEK293 cells expressing polyglutamine-expanded ataxin-3. It is possible that autophagy may be applied as a potential therapeutic approach for SCA3/MJD.