多巴胺代谢系统基因多态性与帕金森病

帕金森病(PD)是人类常见的神经系统退行性疾病之一,其病因和发病机制尚不清楚,可能是遗传和环境等多种因素共同作用的结果。PD以运动减少、肌强直、静止性震颤及姿势障碍为主要症状,其病理特征主要是黑质多巴胺能神经元选择性死亡,多巴胺是纹状体的抑制性神经递质,而乙酰胆碱是兴奋性神经递质,两种神经递质在正常情况下是处于一种动态平衡状态,当多巴胺减少时,乙酰胆碱的作用相对增强,继而进入一种失衡状态,引起临床症状。因此,人们越来越重视多巴胺代谢酶基因研究。多巴胺代谢系统基因包括单胺氧化酶基因、儿茶酚氧位甲基转移酶、多巴胺突触前膜转运体、多巴胺受体基因、多巴胺β羟化酶、酪氨酸羟化酶。近年来,多巴胺代谢系统基因多态性与PD遗传易感性的相关性成为研究的热点,为明确PD的病因带来了希望。

Dopamine Metabolic System Gene Polymorphisms and Parkinson's Disease

Parkinson’s disease(PD) is one of the human common neurodegenerative diseases.It is still not clear about etiology and pathogenesis of PD,which is thought to be a complex interaction between multiple predisposing genes and environmental influences.PD is defined clinically in terms of bradykinesia,rigidity,tremor and postural instability.Its main pathological character is selective de-generation of dopaminergic neurons in the substantia nigra pars compacta.Striatal dopamine is the inhibitory neurotransmitter,but acetyl-choline was excitability neurotransmitter.Two kinds of neurotransmitters normally are in equilibrium,when the dopamine decreases,the role of acetylcholine is relatively strengthening,and then it enters a state of imbalance and and causes clinical symptoms.Therefore,there is growing emphasis on dopamine metabolism enzyme system gene research.Dopamine metabolic system genes include monoamin oxidase gene,Catechol-o-methyltransferase gene,dopomine transporter gene,dopamine receptor gene,Dopamine beta hydroxylase gene and ty-rosine hydroxylase gene.In recent years,a growing interest has prompted to the researches of association studies between dopamine metabolic system genetic polymorphism and PD genetic susceptibility,and it will provide a method to cure the disease in future.