Department of Neurology, Dong-A University School of Medicine, Busan, Korea.
Department of Aged Care and Rehabilitation, University of New South Wales, Bankstown Hospital, Bankstown, NSW, Australia.
J Mov Disord. 2012 Oct;5(2):33-41. doi: 10.14802/jmd.12009. Epub 2012 Oct 30.
Discovering genes following Medelian inheritance, such as autosomal dominant-synuclein and leucine-rich repeat kinase 2 gene, or autosomal recessive Parkin, P-TEN-induced putative kinase 1 gene and Daisuke-Junko 1 gene, has provided great insights into the pathogenesis of Parkinson's disease (PD). Genes found to be associated with PD through investigating genetic polymorphisms or via the whole genome association studies suggest that such genes could also contribute to an increased risk of PD in the general population. Some environmental factors have been found to be associated with genetic factors in at-risk patients, further implicating the role of gene-environment interactions in sporadic PD. There may be confusion for clinicians facing rapid progresses of genetic understanding in PD. After a brief review of PD genetics, we will discuss the insight of new genetic discoveries to clinicians, the implications of ethnic differences in PD genetics and the role of genetic testing for general clinicians managing PD patients.
发现孟德尔遗传的基因,如常染色体显性-synuclein 和富亮氨酸重复激酶 2 基因,或常染色体隐性 Parkin、P-TEN 诱导的假定激酶 1 基因和 Daisuke-Junko 1 基因,为帕金森病(PD)的发病机制提供了重要的见解。通过研究遗传多态性或全基因组关联研究发现与 PD 相关的基因表明,这些基因也可能增加普通人群患 PD 的风险。一些环境因素已被发现与高危患者的遗传因素有关,这进一步表明基因-环境相互作用在散发性 PD 中的作用。面对 PD 遗传理解的快速进展,临床医生可能会感到困惑。在简要回顾 PD 遗传学之后,我们将讨论新遗传发现对临床医生的意义、PD 遗传学中的种族差异的意义以及一般临床医生管理 PD 患者的遗传检测的作用。