Department of Neurotherapeutics, Osaka University Graduate School of Medicine, Osaka, Japan.
Adv Exp Med Biol. 2018;1076:63-78. doi: 10.1007/978-981-13-0529-0_5.
Repeat expansion disorders are a group of inherited neuromuscular diseases, which are caused by expansion mutations of repeat sequences in the disease-causing genes. Repeat expansion disorders include a class of diseases caused by repeat expansions in the coding region of the genes, producing mutant proteins with amino acid repeats, mostly the polyglutamine (polyQ) diseases, and another class of diseases caused by repeat expansions in the noncoding regions, producing aberrant RNA with expanded repeats, which are called noncoding repeat expansion diseases. A variety of Drosophila disease models have been established for both types of diseases, and they have made significant contributions toward elucidating the molecular mechanisms of and developing therapies for these neuromuscular diseases.
重复扩展障碍是一组遗传性神经肌肉疾病，由致病基因中重复序列的扩展突变引起。重复扩展障碍包括一类由基因编码区重复扩展引起的疾病，产生具有重复氨基酸的突变蛋白，主要是多聚谷氨酰胺（polyQ）疾病，另一类由非编码区重复扩展引起的疾病，产生具有扩展重复的异常 RNA，称为非编码重复扩展疾病。这两种类型的疾病都建立了多种果蝇疾病模型，它们为阐明这些神经肌肉疾病的分子机制和开发治疗方法做出了重大贡献。
