帕金森病与ATP13A2基因

摘要

ATP13A2基因是帕金森病(PD)的致病基因,早发型帕金森病(EOPD)和Kufor-Rakeb综合征(KRS)患者中均发现ATP13A2基因突变.基因突变类型与疾病的严重程度和发病年龄相关,PD患者中黑质多巴胺能神经元也存在ATP13A2基因mRNA表达升高.因此,对ATP13A2基因的研究将有助于该病的基因诊断、病理生理学机制的阐明和治疗.%ATP13A2 gene was identified as the causative gene of Parkinson's disease, and its mutations occurred in early-onset Parkinson's disease ( EOPD) and Kufor-Rakeb syndrome ( KRS) patients. The types of mutations were associated with the severity of disease and the age of onset, and the expression of ATP13A2 mRNA was higher in substantia nigra dopaminergic neurons of PD patients. Study of ATP13A2 gene will be helpful for gene diagnosis, elucidation of pathophysiologic mechanism and treatment of Parkinson's disease.