肌萎缩侧索硬化
C9orf72
TARDBP公司
SOD1
神经科学
疾病
全基因组关联研究
生物
遗传关联
表型
遗传学
医学
基因
三核苷酸重复扩增
病理
等位基因
单核苷酸多态性
基因型
作者
Alan E. Renton,Adriano Chiò,Bryan J. Traynor
摘要
Considerable progress has been made in unraveling the genetic etiology of amyotrophic lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the third most common neurodegenerative disease overall. Here we review genes implicated in the pathogenesis of motor neuron degeneration and how this new information is changing the way we think about this fatal disorder. Specifically, we summarize current literature of the major genes underlying ALS, SOD1, TARDBP, FUS, OPTN, VCP, UBQLN2, C9ORF72 and PFN1, and evaluate the information being gleaned from genome-wide association studies. We also outline emerging themes in ALS research, such as next-generation sequencing approaches to identify de novo mutations, the genetic convergence of familial and sporadic ALS, the proposed oligogenic basis for the disease, and how each new genetic discovery is broadening the phenotype associated with the clinical entity we know as ALS.
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