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Genetics of Parkinson's disease and biochemical studies of implicated gene products - Commentary

机译:帕金森氏病的遗传学和相关基因产物的生化研究-评论

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Parkinson's disease was thought, until recently, to have little or no genetic component. This notion has changed with the identification of three genes, and the mapping of five others, that are linked to rare familial forms of the disease (FPD). The products of the identified genes, alpha-synuclein (PARK 1), parkin (PARK 2), and ubiquitin-C-hydrolase-L1 (PARK 5) are the subject of intense cell-biological and biochemical studies designed to elucidate the underlying mechanism of FPD pathogenesis. In addition, the complex genetics of idiopathic PD is beginning to be unraveled. Genetic information may prove to be useful in identifying new therapeutic targets and identifying the preclinical phase of PD, allowing treatment to begin sooner.
机译:直到最近,人们仍认为帕金森氏病几乎没有遗传成分。随着三个基因的鉴定以及五个其他基因的映射,这一观念发生了变化,这三个基因与该疾病的罕见家族形式(FPD)相关。鉴定出的基因产物,α-突触核蛋白(PARK 1),帕金(PARK 2)和泛素-C-水解酶-L1(PARK 5)是细胞生物学和生化研究的重点,旨在阐明其潜在机制。的FPD发病机理。另外,特发性PD的复杂遗传学开始被阐明。遗传信息可能被证明可用于识别新的治疗靶点和PD的临床前阶段,从而使治疗可以更早开始。

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