Targeting Expanded Repeats by Small Molecules in Repeat Expansion Disorders
Targeting Expanded Repeats by Small Molecules in Repeat Expansion Disorders
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DOI：
10.1002/mds.28397
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发表时间：
2020-12
影响因子：
8.6
通讯作者：
M. Nakamori;H. Mochizuki
中科院分区：
文献类型：
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作者：
M. Nakamori;H. Mochizuki
遗传分析的最新技术进步已经允许连续发现和阐明重复扩增障碍：由基因组中重复序列的异常扩增引起的疾病。这些重复扩展障碍中的许多是神经退行性运动障碍。这些疾病的根治方法尚未确立。虽然重复扩增疾病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，这是重复疾病的根本原因。特别是，已经发现一种小分子与异常扩增的CAG重复序列（亨廷顿氏病的病因）结合，并缩短它们。这种靶向核酸的小分子有望被开发成能够改善重复扩增障碍的症状并预防其发作的开创性治疗药物。© 2020国际帕金森和运动障碍协会
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