帕金森病的中西医结合研究现状与展望精简.pptx

帕金森病中西医结合诊疗研究现状与展望Clinical Overview and Research Prospects of Parkinson’s disease in the Integrative Chinese and Western Medicine;一、帕金森病概述Definition of Parkinson’s disease (PD);图1 PD患病率与年龄、地区的相关性研究;;临床特征：以锥体外系运动障碍为主，表现为运动徐缓、静止性震颤和强直；还可出现吞咽困难，自主神经功能障碍和痴呆。 (Clinically it is characterized by the motor symptoms of extrapyramidal system, manifesting as slowness of movement, static tremor and rigidity. Patient with PD also displays dysphagia, autonomic dysfunction and dementia). ;其特征性病理改变是中脑黑质多巴胺神经元的缺失，以及黑质神经元内出现Lewy小体。 (Its characteristic pathological changes include the death of dopaminergic neurons in the substantia nigra, a region of the midbrain and the appearance of Lewy body in residual neurons of substantia nigra).;;;二、基础医学研究进展Research overview of modern medicine;（二）分子流行病学研究：研究发现与帕金森病发病有关的基因已达21个。;Fig.1 Simplified workflows for whole-exome, whole-genome and transcriptome sequencing ;Fig.2 Schematic overview of effect sizes and frequencies of genetic variants in PD genes identified by GWAS;Gene (locus);Gene (locus);其中最重要的为PARK1基因突变： (Molecular epidemiology research：Nine genes related to PD have been found. Some popular genes see as follows): a-突触核蛋白(a-synuclein)定位于4q21-23，为PARK1基因突变，是脑内一种突触前蛋白，与家族性早发帕金森病密切相关，是散发性帕金森病和其他神经退行性病变中路易小体的主要成分。 (a-synuclein positioned on 4q21-23 is the genetic mutation of PARK1. It is a presynaptic protein existing in brain, closely related to familial early-onset PD, witch is the major component of Lewy body in sporadic PD and other neurodegenerative diseases). ;（三）分子病理学研究：构象病是当代医学发展具有里程碑意义的分子医学新概念，为诸多重大疑难疾病由传统的姑息性治疗向根治性治疗转变带来了突破的新希望。构象病即是由分子构象异常的错误折叠蛋白质积聚导致的一类疾病，错误折叠蛋白质积聚导致ERS相关细胞凋亡是蛋白质构象病的核心分子病理机制。。 (New concept in Molecular pathology: Conformational disease, a new concept in molecular medicine, is a landmark in the development of modern medicine. It brings breakthrough and new hope to many gravely difficult diseases from traditional palliative treatment to radical treatment. Conformational disease is a kind of