Research progress of polyglutamine extension in neurodegenerative diseases
MAO Ying
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.
Keywords：polyglutamineneurodegenerative diseasesHuntington's diseasespinocerebellar ataxiaspinal-bulbar muscular atrophy
Publication Date：2025-03-25
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：8( 773-780 )