Distinct fission signatures predict mitochondrial degradation or biogenesis.

Mitochondrial fission is a highly regulated process that, when disrupted, can alter metabolism, proliferation and apoptosis. Dysregulation has been linked to neurodegeneration, cardiovascular disease and cancer. Key components of the fission machinery include the endoplasmic reticulum and actin, which initiate constriction before dynamin-related protein 1 (DRP1) binds to the outer mitochondrial membrane via adaptor proteins, to drive scission.

Heterozygous deletions of noncoding parts of the gene cause retinitis pigmentosa via reduced gene expression.

Purpose: Heterozygous mutations in the gene , encoding a pre-mRNA splicing factor, cause autosomal dominant retinitis pigmentosa (adRP) with reduced penetrance. At the molecular level, pathogenicity results from haploinsufficiency, as the largest majority of such mutations trigger nonsense-mediated mRNA decay or involve large deletions of coding exons. We investigated genetically two families with a history of adRP, one of whom showed incomplete penetrance.