肌萎缩侧索硬化症的分子生物学：遗传学见解

Molecular biology of amyotrophic lateral sclerosis: insights from genetics.

作者信息

Pasinelli Piera, Brown Robert H

机构信息

Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Room 3125, Building 114, 16th Street, Navy Yard, Charlestown, Massachusetts 02429, USA.

出版信息

Nat Rev Neurosci. 2006 Sep;7(9):710-23. doi: 10.1038/nrn1971.

DOI:10.1038/nrn1971

PMID:16924260

Abstract

Amyotrophic lateral sclerosis (ALS) is a paralytic disorder caused by motor neuron degeneration. Mutations in more than 50 human genes cause diverse types of motor neuron pathology. Moreover, defects in five Mendelian genes lead to motor neuron disease, with two mutations reproducing the ALS phenotype. Analyses of these genetic effects have generated new insights into the diverse molecular pathways involved in ALS pathogenesis. Here, we present an overview of the mechanisms for motor neuron death and of the role of non-neuronal cells in ALS.

摘要

肌萎缩侧索硬化症（ALS）是一种由运动神经元变性引起的麻痹性疾病。超过50个人类基因的突变会导致多种类型的运动神经元病变。此外，五个孟德尔基因的缺陷会导致运动神经元疾病，其中两个突变会重现ALS表型。对这些遗传效应的分析为ALS发病机制中涉及的多种分子途径带来了新的见解。在这里，我们概述了运动神经元死亡的机制以及非神经元细胞在ALS中的作用。