Research progress of polyglutamine extension in neurodegenerative diseases
10.3969/j.issn.1006-5725.2025.06.001
- VernacularTitle:多聚谷氨酰胺延伸在神经退行性疾病中的研究进展
- Author:
Ying MAO
1
Author Information
1. 遵义医科大学珠海校区基础教学部人体解剖学与组织胚胎学教研室(广东 珠海 519041)
- Publication Type:Journal Article
- Keywords:
polyglutamine;
neurodegenerative diseases;
Huntington's disease;
spinocerebellar ataxia;
spinal-bulbar muscular atrophy
- From:
The Journal of Practical Medicine
2025;41(6):773-780
- CountryChina
- Language:Chinese
-
Abstract:
Polyglutamine(PolyQ)expansion,encoded by repetitive cytosine-adenine-guanine(CAG)sequences,is a key pathogenic mechanism in various neurodegenerative diseases.Abnormal PolyQ expansion leads to protein misfolding and aggregation,resulting in disruptions of the protein degradation system,mitochondrial dysfunction,and endoplasmic reticulum stress,ultimately causing neuronal damage and death.This review exam-ines the impact of PolyQ expansion on protein structure,function,and gene expression,with a focus on its role in the pathogenesis of neurodegenerative diseases.Furthermore,it summarizes current therapeutic research progress in these diseases,including emerging approaches such as gene therapy,antisense oligonucleotide therapy,and stem cell therapy.Additionally,it explores the future potential of precision medicine and gene editing technologies in treatment applications.
