Huntington's disease is characterized by a loss of brain striatal neurons that occurs as a consequence of an expansion of a CAG repeat in the huntingtin protein. The resulting extended polyglutamine stretch confers a deleterious gain-of-function to the protein. Analysis of the mutant protein has attracted most of the research activity in the field, however re-examination of earlier data and new results on the beneficial functions of normal huntingtin indicate that loss of the normal protein function might actually equally contribute to the pathology. Thus, complete elucidation of the physiological role(s) of huntingtin and its mode of action are essential and could lead to new therapeutic approaches.

中文翻译：

---

正常亨廷顿蛋白功能的丧失：亨廷顿病研究的新进展

亨廷顿氏病的特征是大脑纹状体神经元丢失，这是由于亨廷顿蛋白中 CAG 重复序列扩增的结果。由此产生的延长的聚谷氨酰胺拉伸赋予蛋白质有害的功能增益。突变蛋白的分析吸引了该领域的大部分研究活动，但是重新检查早期数据和关于正常亨廷顿有益功能的新结果表明，正常蛋白功能的丧失实际上可能同样导致病理学。因此，完全阐明亨廷顿蛋白的生理作用及其作用模式是必不可少的，并且可能会导致新的治疗方法。