将基础研究发现转化为治疗亨廷顿病的挑战。

Rare diseases (Austin, Tex.) Pub Date : 2014-03-31 eCollection Date: 2014-01-01 DOI:10.4161/rdis.28637
Daria Mochly-Rosen, Marie-Helene Disatnik, Xin Qi
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引用次数: 8

摘要

亨廷顿病是一种罕见的神经退行性疾病,由亨廷顿蛋白n端附近的多聚谷氨酰胺重复序列插入和/或扩增引起。虽然明确的基因检测已有20年的历史,但目前的药物治疗并不能预防或减缓疾病的进展。最近的基础研究发现了治疗亨廷顿病的潜在新药靶点。然而,在将这些发现转化为这些患者的治疗策略方面存在明显的挑战。下面以我们最近的经验为例,简要讨论这些挑战。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

The challenge in translating basic research discoveries to treatment of Huntington disease.

The challenge in translating basic research discoveries to treatment of Huntington disease.

Huntington disease is a rare neurodegenerative disease resulting from insertion and/or expansion of a polyglutamine repeats close to the N-terminal of the huntingtin protein. Although unequivocal genetic tests have been available for about 20 years, current pharmacological treatments do not prevent or slow down disease progression. Recent basic research identified potential novel drug targets for the treatment of Huntington disease. However, there are clear challenges in translating these discoveries into treatment strategies for these patients. The following is a brief discussion of these challenges using our recent experience as an example.

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