Modulating the endoplasmic reticulum stress response attenuates neurodegeneration in a Caenorhabditiselegans model of spinal muscular atrophy.

ABSTRACT: Spinal muscular atrophy (SMA) is a devastating autosomal recessive neuromuscular disease resulting in muscle atrophy and neurodegeneration, and is the leading genetic cause of infant death. SMA arises when there are homozygous deletion mutations in the human SMN1 gene, leading to a decrease in corresponding SMN1 protein. Although SMN1 is expressed across multiple tissue types, much of the previous research into SMA focused on the neuronal aspect of the disease, overlooking many of the potential non-neuronal aspects of the disease. Therefore, we sought to address this gap in knowledge by modeling SMA in the nematode Caenorhabditis elegans We mutated a previously uncharacterized allele, which resulted in the onset of mild SMA-like phenotypes, allowing us to monitor the onset of phenotypes at

SUBMITTER: Doyle JJ 

PROVIDER: S-EPMC7774902 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature