蛋白质磷酸化修饰在多聚谷氨酰胺疾病中的研究进展

The advances in research on phosphorylation of polyglutamine disease

多聚谷氨酰胺（polyglutamine，polyQ）疾病是一大组常见的神经退行性疾病，疾病的发生源于致病基因编码区CAG三核苷酸重复扩展突变导致基因的编码蛋白——polyQ蛋白产生多聚谷氨酰胺扩展突变。polyQ疾病的发病机制目前虽然尚未得到完全阐明，但越来越多的研究表明蛋白质的磷酸化修饰在亨廷顿舞蹈病、齿状核红核苍白球路易氏体萎缩症、延髓脊肌萎缩症、遗传性脊髓小脑型共济失调1型、遗传性脊髓小脑型共济失调3型／马查多一约瑟夫病等疾病的发生发展中发挥了重要的作用。

Polyglutamine （polyQ） diseases are a group of hereditary neurodegenerative disorders caused by expansion of a glutamine repeat in responsible gene products. To date, the pathogenesis of polyQ diseases is still not very clear, but many researches suggest that phosphorylation of mutant proteins plays a critical role on the process of Huntington＇s disease, dentatorubral-pallidoluysian atrophy, spinal bulbar muscular atrophy, spinocerebellar ataxia 1 and spinocerebellar ataxia 3/Machado-Joseph disease.