Department of Neuroscience, Georgetown University, Washington, DC, USA.
Cold Spring Harb Perspect Med. 2012 Jul;2(7):a009449. doi: 10.1101/cshperspect.a009449.
Within the last two decades, genomics and bioinformatics have profoundly impacted our understanding of the molecular mechanisms of Parkinson's disease (PD). From the description of the first PD gene in 1997 until today, we have witnessed the emergence of new technologies that have revolutionized our concepts to identify genetic mechanisms implicated in human health and disease. Driven by the publication of the human genome sequence and followed by the description of detailed maps for common genetic variability, novel applications to rapidly scrutinize the entire genome in a systematic, cost-effective manner have become a reality. As a consequence, about 30 genetic loci have been unequivocally linked to the pathogenesis of PD highlighting essential molecular pathways underlying this common disorder. Herein we discuss how neurogenomics and bioinformatics are applied to dissect the nature of this complex disease with the overall aim of developing rational therapeutic interventions.
在过去的二十年中，基因组学和生物信息学深刻地影响了我们对帕金森病（PD）分子机制的理解。从 1997 年描述第一个 PD 基因到今天，我们见证了新技术的出现，这些技术彻底改变了我们对与人类健康和疾病相关的遗传机制的认识。人类基因组序列的公布以及详细的常见遗传变异图谱的描述推动了这一进程，新的应用可以以系统、经济有效的方式快速全面地检查整个基因组。因此，大约 30 个遗传位点已被明确与 PD 的发病机制相关，突出了这种常见疾病的基本分子途径。本文讨论了神经基因组学和生物信息学如何应用于剖析这种复杂疾病的本质，总体目标是开发合理的治疗干预措施。
