Genetics of amyotrophic lateral sclerosis: An update

Sheng Chen, Pavani Sayana, Xiaojie Zhang, Weidong Le

Research output: Contribution to journalReview article

169 Scopus citations

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving both upper motor neurons (UMN) and lower motor neurons (LMN). Enormous research has been done in the past few decades in unveiling the genetics of ALS, successfully identifying at least fifteen candidate genes associated with familial and sporadic ALS. Numerous studies attempting to define the pathogenesis of ALS have identified several plausible determinants and molecular pathways leading to motor neuron degeneration, which include oxidative stress, glutamate excitotoxicity, apoptosis, abnormal neurofilament function, protein misfolding and subsequent aggregation, impairment of RNA processing, defects in axonal transport, changes in endosomal trafficking, increased inflammation, and mitochondrial dysfunction. This review is to update the recent discoveries in genetics of ALS, which may provide insight information to help us better understanding of the disease neuropathogenesis.

Original languageEnglish (US)
Article number28
JournalMolecular Neurodegeneration
Volume8
Issue number1
DOIs
StatePublished - 2013

Keywords

  • Amyotrophic lateral sclerosis
  • Apoptosis
  • Autophagy
  • Disease-related gene mutations
  • Glutamate excitotoxicity
  • Oxidative stress

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience
  • Clinical Neurology
  • Molecular Biology

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