Jimenez-Sanchez Maria, Licitra Floriana, Underwood Benjamin R, Rubinsztein David C
Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge CB2 0XY, United Kingdom.
Department of Old Age Psychiatry, Beechcroft, Fulbourn Hospital, Cambridge CB21 5EF, United Kingdom.
Cold Spring Harb Perspect Med. 2017 Jul 5;7(7):a024240. doi: 10.1101/cshperspect.a024240.
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Finally, we outline some of the therapeutic strategies that are currently being pursued to slow down the disease.
亨廷顿舞蹈症是一种迟发性神经退行性疾病，由编码亨廷顿蛋白的基因中的CAG三核苷酸重复序列引起。尽管其遗传起源明确，但该疾病背后的分子和细胞机制尚不清楚且复杂。在这里，我们回顾了野生型亨廷顿蛋白目前已知的一些功能，并讨论了CAG重复序列扩增所产生的有害影响，这种扩增会转化为异常长的聚谷氨酰胺链。最后，我们概述了目前正在探索的一些减缓该疾病的治疗策略。
