Tsuji S
Department of Neurology, Niigata University.
Nihon Rinsho. 1999 Apr;57(4):778-86.
Triplet repeat diseases are diseases caused by unstable expansion of trinucleotide repeats in the causative genes. Identification of the causative genes has made it possible to understand the clinical presentations and molecular mechanisms of neurodegeneration caused by expanded triplet repeat diseases. In the triplet repeat diseases caused by expansion of CAG trinucleotide repeats, the CAG repeats code for polyglutamine stretches. Evidences, which indicate that proteins with expanded polyglutamine stretches result in aggregate formation and induce apoptosis, are accumulating, and it is expected that development of therapeutic measures for triplet repeat diseases will become a reality in the near future.
三核苷酸重复疾病是由致病基因中三核苷酸重复序列的不稳定扩增引起的疾病。致病基因的鉴定使得人们能够了解由扩增的三核苷酸重复疾病引起的神经退行性变的临床表现和分子机制。在由CAG三核苷酸重复序列扩增引起的三核苷酸重复疾病中，CAG重复序列编码多聚谷氨酰胺片段。越来越多的证据表明，具有扩增的多聚谷氨酰胺片段的蛋白质会导致聚集体形成并诱导细胞凋亡，预计在不久的将来，针对三核苷酸重复疾病的治疗措施将会成为现实。
