Defective Expression of Mitochondrial, Vacuolar H⁺-ATPase and Histone Genes in a C. elegans Model of SMA.

ABSTRACT: Spinal muscular atrophy (SMA) is a severe motor neuron degenerative disease caused by loss-of-function mutations in the survival motor neuron gene SMN1. It is widely posited that defective gene expression underlies SMA. However, the identities of these affected genes remain to be elucidated. By analyzing the transcriptome of a Caenorhabditis elegans SMA model at the pre-symptomatic stage, we found that the expression of numerous nuclear encoded mitochondrial genes and vacuolar H⁺-ATPase genes was significantly down-regulated, while that of histone genes was significantly up-regulated. We previously showed that the uaf-1 gene, encoding key splicing factor U2AF large subunit, could affect the behavior and lifespan of smn-1 mutants. Here, we found that <

SUBMITTER: Gao X 

PROVIDER: S-EPMC6509145 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature