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帕金森病的遗传学基础。

Genetic basis of Parkinson disease.

机构信息

Institute for Biomedical Technology (BIOMED), Centre for Research and Technology-Thessaly (CERETETH), Larussa, Greece.

出版信息

Neurosurg Focus. 2010 Jan;28(1):E7. doi: 10.3171/2009.10.FOCUS09220.

Abstract

Over the past few years, considerable progress has been made in understanding the molecular mechanisms of Parkinson disease (PD). Mutations in certain genes are found to cause monogenic forms of the disorder, with autosomal dominant or autosomal recessive inheritance. These genes include alpha-synuclein, parkin, PINK1, DJ-1, LRRK2, and ATP13A2. The monogenic variants are important tools in identifying cellular pathways that shed light on the pathogenesis of this disease. Certain common genetic variants are also likely to modulate the risk of PD. International collaborative studies and meta-analyses have identified common variants as genetic susceptibility risk/protective factors for sporadic PD.

摘要

在过去的几年中,人们在理解帕金森病(PD)的分子机制方面取得了相当大的进展。某些基因突变被发现会导致这种疾病的单基因形式,具有常染色体显性或常染色体隐性遗传。这些基因包括α-突触核蛋白、Parkin、PINK1、DJ-1、LRRK2 和 ATP13A2。单基因变异是确定阐明该疾病发病机制的细胞途径的重要工具。某些常见的遗传变异也可能调节 PD 的风险。国际合作研究和荟萃分析已经确定常见变异是散发性 PD 的遗传易感性风险/保护因素。

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