摘要
帕金森氏病(PD)是一种常见的由胺能神经元渐进性丢失和路易体积累的引起的病因错综复杂的神经退行性疾病。早在1997年,因为首次致病突变α-突触核蛋白基因(SNCA)的识别,遗传作用已经作为在该疾病的病原学的主要因素。孟德尔震颤麻痹-所有PD形式中的一种,经过深入地研究,发现了19个位点。最近,基因组尺度的相关研究提供了这些基因和其他基因变异可能使迟发型和散发性帕金森氏病风险增加的令人信服的证据, 此外,GBA的杂合突变基因(在戈谢病中突变)是最强的帕金森病的遗传易感性因素之一。这一发现扩大帕金森病遗传范围,包括了许多基因,先前这些基因被认为与多种疾病如脊髓小脑性共济失调,线粒体紊乱及脆性X综合征相关。目前,帕金森病的遗传基础定义了一个统一的从单纯孟德尔形式(如那些引起常染色体隐性基因)到多因素遗传,这是由许多不同的基因变异和环境因素变量的相互作用所引起的。
关键词: 遗传学,单基因,多因子的,帕金森疾病,帕金森症,风险因子。
Current Molecular Medicine
Title:Parkinson Disease Genetics: A "Continuum" from Mendelian to Multifactorial Inheritance
Volume: 14 Issue: 8
Author(s): S. Petrucci, F. Consoli and E.M. Valente
Affiliation:
关键词: 遗传学,单基因,多因子的,帕金森疾病,帕金森症,风险因子。
摘要: Parkinson Disease (PD) is a common neurodegenerative disorder of intricate etiology, caused by progressive loss of aminergic neurons and accumulation of Lewy bodies. The predominant role of genetics in the etiology of the disease has emerged since the identification of the first pathogenetic mutation in SNCA (alpha-synuclein) gene, back in 1997. Mendelian parkinsonisms, a minority among all PD forms, have been deeply investigated, with 19 loci identified. More recently, genome wide association studies have provided convincing evidence that variants in some of these genes, as well as in other genes, may confer an increased risk for late onset, sporadic PD. Moreover, the finding that heterozygous mutations in the GBA gene (mutated in Gaucher disease) are among the strongest genetic susceptibility factors for PD, has widened the scenario of PD genetic background to enclose a number of genes previously associated to distinct disorders, such as genes causative of spinocerebellar ataxias, mitochondrial disorders and fragile X syndrome. At present, the genetic basis of PD defines a continuum from purely mendelian forms (such as those caused by autosomal recessive genes) to multifactorial inheritance, resulting from the variable interplay of many distinct genetic variants and environmental factors.
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Cite this article as:
Petrucci S., Consoli F. and Valente E.M., Parkinson Disease Genetics: A "Continuum" from Mendelian to Multifactorial Inheritance, Current Molecular Medicine 2014; 14 (8) . https://dx.doi.org/10.2174/1566524014666141010155509
DOI https://dx.doi.org/10.2174/1566524014666141010155509 |
Print ISSN 1566-5240 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5666 |
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