Department of Neurology, Osaka University Graduate School of Medicine, Osaka, Japan.
Mov Disord. 2021 Feb;36(2):298-305. doi: 10.1002/mds.28397. Epub 2020 Dec 7.
Recent technological advancements in genetic analysis have allowed for the consecutive discovery and elucidation of repeat expansion disorders: diseases caused by the abnormal expansion of repeat sequences in the genome. Many of these repeat expansion disorders are neurodegenerative movement disorders. Radical cures for these disorders have yet to be established. Although conventional treatments for repeat expansion disorders have mainly targeted the abnormal mRNA and proteins encoded by the affected genes, therapeutic approaches targeting repeat DNA, the root cause of repeat disorders, is also being explored in current research. In particular, a small molecule has been found that binds to abnormally expanded CAG repeats, the cause of Huntington's disease, and shortens them. Such small molecules targeting nucleic acids are expected to be developed into groundbreaking therapeutic drugs capable of ameliorating the symptoms of repeat expansion disorders and preventing their onset. © 2020 International Parkinson and Movement Disorder Society.
近年来，遗传分析技术的进步使得连续发现和阐明了重复扩展障碍：由基因组中重复序列的异常扩展引起的疾病。这些重复扩展障碍中有许多是神经退行性运动障碍。这些疾病的根治方法尚未建立。虽然重复扩展障碍的常规治疗主要针对受影响基因编码的异常 mRNA 和蛋白质，但目前的研究也在探索针对重复 DNA 的治疗方法，重复障碍的根本原因。特别是，已经发现一种小分子可以与导致亨廷顿病的异常扩展 CAG 重复序列结合并缩短它们。这种针对核酸的小分子有望开发成开创性的治疗药物，能够改善重复扩展障碍的症状并预防其发作。© 2020 国际帕金森病和运动障碍协会。
