McFarland Karen N, Cha Jang-Ho J
Department of Neurology, University of Florida, Gainesville, FL 32610-0236, USA.
Handb Clin Neurol. 2011;100:25-81. doi: 10.1016/B978-0-444-52014-2.00003-3.
It has been more than 17 years since the causative mutation for Huntington's disease was discovered as the expansion of the triplet repeat in the N-terminal portion of the Huntingtin (HTT) gene. In the intervening time, researchers have discovered a great deal about Huntingtin's involvement in a number of cellular processes. However, the role of Huntingtin in the key pathogenic mechanism leading to neurodegeneration in the disease process has yet to be discovered. Here, we review the body of knowledge that has been uncovered since gene discovery and include discussions of the HTT gene, CAG triplet repeat expansion, HTT expression, protein features, posttranslational modifications, and many of its known protein functions and interactions. We also highlight potential pathogenic mechanisms that have come to light in recent years.
自亨廷顿舞蹈症（Huntington's disease）的致病突变被发现是亨廷顿蛋白（HTT）基因N端部分的三联体重复序列扩增以来，已经过去了17年多。在此期间，研究人员对亨廷顿蛋白在许多细胞过程中的作用有了大量了解。然而，亨廷顿蛋白在导致该疾病神经退行性变的关键致病机制中的作用尚未被发现。在这里，我们回顾了自基因发现以来所揭示的知识体系，包括对HTT基因、CAG三联体重复序列扩增、HTT表达、蛋白质特征、翻译后修饰以及其许多已知的蛋白质功能和相互作用的讨论。我们还强调了近年来出现的潜在致病机制。
