Abstract
Laser-captured spinal cord motorneurons from ALS subjects show increased gene expression in vacuolar ATPase networks
Highlights
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and usually fatal adult systems neurodegeneration that arises from premature, accelerated death of lower motor neurons (MN’s) in brainstem and spinal cord and upper MN’s in motor cortex [1]
In a recent RNA-sequencing study of ALS cervical spinal cord sections [36], we described an apparent increase in neuroinflammation signaling involving tumor necrosis factor-alpha (TNF-α) as a major upstream regulator
We found 263 genes significantly overexpressed in ALS MN’s that were in Gene Ontology (GO) families significantly representing vacuolar ATPase
Summary
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive and usually fatal (in the absence of artificial ventilation) adult systems neurodegeneration that arises from premature, accelerated death of lower motor neurons (MN’s) in brainstem and spinal cord and upper MN’s in motor cortex [1]. A minority (~5-10%) of ALS occurs in families (fALS; [2]) and appears to arise from mutations in one of a group of at least 14 seemingly unrelated genes. The most frequently occurring mutated fALS gene is a hexanucleotide repeat in the promoter or first exon of orf, located on Chromosome 9, C9orf72 [1,3,4,5,6,7,8]. Mutations in C9orf are frequently associated with fronto-temporal dementia and are found in ~40% of fALS and up to 11% of sporadic ALS (sALS)
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