转基因果蝇模型与多聚谷氨酰胺疾病

Transgenic Drosophila Models and Polyglutamine Diseases

多聚谷氨酰胺(polyglutamine,PolyQ)疾病是由CAG三核苷酸异常重复扩增并编码多聚谷氨酰胺链而致病的一类疾病。目前,已经发现了9种PolyQ疾病,临床表现为成年起病,缓慢进展性的神经系统功能障碍。近年来许多研究者用转基因动物模型(小鼠、果蝇、斑马鱼等)研究神经退行性疾病的表型、发病机制及治疗,其中,果蝇以其独特的分子遗传学优势成为研究PolyQ疾病的理想模式生物。本文就运用转基因果蝇研究PolyQ疾病的表型及发病机制作一综述。

Polyglutamine （polyQ） diseases are inherited neurodegenerative disorders caused by the expansion of CAG trinucleotide repeats coding for polyglutaine （polyQ） in the gene products. So far, at least nine inherited neurodegenerative diseases are found. They are all progressive disorders with onset typically occurring in midlife. Rencently, many researchers use transgenic animal models （mice, fruit flies, zebra fish, etc.） to study the phenotype, pathogenesis and treatment of neurodegenerative diseases. Among them, the Drosophila becomes an ideal model organism with unique advantages for studying the molecular genetics of disease. This article has summaried the phenotype and Pathogenesis of Transgenic drosophila models in Polyglutamine diseases.