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Genetic criteria for Huntington's disease pathogenesis.

机译：亨廷顿舞蹈病发病机理的遗传标准。

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摘要

Genetic analysis aims to identify the variations in DNA sequence whose functional consequences produce heritable variations in phenotype. In one of the first successes of unbiased molecular genetic analysis in human disease, the Huntington's disease (HD) gene was mapped and cloned without any prior knowledge of the nature of its protein product or of the molecular defect that underlies the characteristic phenotype of the disorder. However, while the cloning of HD and recognition of its trinucleotide repeat expansion spawned a plethora of approaches to investigating HD through its distinctive neuropathology, the role for genetic strategies in HD research did not end there. The use of genetic analysis has remained a critical tool for defining the characteristics of the mechanism that triggers the pathogenic process, permitting the investigation of early events that occur long before traditionally recognized pathology. Delineation of these events can reveal molecular targets for development of therapies that prevent onset of HD. Most recently, an extension of genetic analysis to the identification of non-linked genetic variations that alter the course of HD pathogenesis has offered the promise of identifying modifier genes to reveal biological pathways active throughout the disease process and to provide valid targets for pharmacological intervention. Thus, unbiased genetic strategies have not only provided a crucial entree into molecular investigation of HD via a root cause that was previously unsuspected, they also represent a continuing route to accelerate the ultimate goal of developing an effective treatment for HD.
机译：遗传分析旨在鉴定DNA序列的变异，其功能后果会产生可遗传的表型变异。在人类疾病中无偏见分子遗传学分析的首批成功案例之一中，对亨廷顿氏病（HD）基因进行了定位和克隆，而无需任何事先了解其蛋白质产物的性质或构成该疾病特征表型的分子缺陷。然而，尽管克隆HD和识别其三核苷酸重复扩增产生了许多通过其独特的神经病理学研究HD的方法，但是遗传策略在HD研究中的作用并没有止于此。遗传分析的使用仍然是定义触发病原过程的机制特征的关键工具，允许调查早于传统上公认的病理学发生的早期事件。对这些事件的描述可以揭示阻止HD发作的疗法发展的分子靶标。最近，将遗传分析扩展到改变HD发病机理的非连锁遗传变异的鉴定，提供了鉴定修饰基因以揭示整个疾病过程中活跃的生物途径并为药理干预提供有效靶点的希望。因此，无偏见的遗传策略不仅通过先前从未被怀疑的根本原因提供了进入HD分子研究的关键途径，而且还代表了一条持续的途径，以加快开发有效的HD治疗最终目标。

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