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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。
Parkinson’s disease (PD) is one of the most common neurodegenerative diseases in humans. The etiology and pathogenesis of Parkinson’s disease (PD) is not yet clear. It may be the result of a combination of genetic and environmental factors. PD with motor reduction, muscle rigidity, rest tremor and postural disorders as the main symptoms, the pathological features are mainly selective death of dopaminergic neurons in the substantia nigra, dopamine is an inhibitory neurotransmitter of the striatum, and acetylcholine is excitability Neurotransmitter, two neurotransmitters in a normal state is in a state of dynamic equilibrium, when dopamine decreases, the role of acetylcholine relatively enhanced, and then entered an imbalance, causing clinical symptoms. Therefore, people pay more and more attention to dopamine metabolic enzyme gene research. The dopamine metabolic system genes include the monoamine oxidase gene, catechol oxygen methyltransferase, dopamine presynaptic membrane transporter, dopamine receptor gene, dopamine beta hydroxylase, tyrosine hydroxylase. In recent years, the relationship between dopamine metabolic gene polymorphism and genetic susceptibility to PD has become a hot topic, which has brought hope for clarifying the cause of PD.