多聚甘氨酸疾病研究进展

Research advances on polyglycine diseases

核苷酸重复扩增是神经退行性病变的常见病因之一。多聚甘氨酸疾病是最近定义的一类以CGG三核苷酸重复扩增、体内异常多聚甘氨酸蛋白产生和聚集以及核内包涵体形成为特征的神经和肌肉退行性疾病。脆性X相关震颤共济失调综合征以及神经元核内包涵体病是最早被证明的多聚甘氨酸疾病。近年来,随着临床认识的提高和基因检测技术的发展,本类疾病的病例数量不断增加。文中总结多聚甘氨酸疾病的近期研究进展,并对其致病机制及临床诊疗热点进行探讨。

Nucleotide repeat expansion is one of the common causes for neurodegenerative disorders.Polyglycine diseases are a newly defined neuro-and muscle-degenerative disease spectrum characterized by CGG trinucleotide repeat expansions,generation and aggregation of aberrant polyglycine protein,and formation of intranuclear inclusions.To date,the aggregation of pathogenic polyglycine protein has been proved in fragile X-associated tremor/ataxia syndrome and neuronal intranuclear inclusion disease.In recent years,the case load of these diseases grows rapidly with the increasing awareness and developing genetic testing technologies.This article aims to systematically review the recent progress in polyglycine diseases,and probe into their pathogenic mechanisms as well as clinical concerns.