TY - JOUR
T1 - Genetics of amyotrophic lateral sclerosis
T2 - An update
AU - Chen, Sheng
AU - Sayana, Pavani
AU - Zhang, Xiaojie
AU - Le, Weidong
N1 - Funding Information:
This paper is funded by China National Nature Science Foundation (No 81200977, 81000541 and 81171201).
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - Amyotrophic lateral sclerosis
KW - Apoptosis
KW - Autophagy
KW - Disease-related gene mutations
KW - Glutamate excitotoxicity
KW - Oxidative stress
UR - http://www.scopus.com/inward/record.url?scp=84881275424&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84881275424&partnerID=8YFLogxK
U2 - 10.1186/1750-1326-8-28
DO - 10.1186/1750-1326-8-28
M3 - Review article
C2 - 23941283
AN - SCOPUS:84881275424
SN - 1750-1326
VL - 8
JO - Molecular Neurodegeneration
JF - Molecular Neurodegeneration
IS - 1
M1 - 28
ER -