Fly model links mitochondrial function, cell death and heart disease

Martínez-Morentin L, Martínez L, Piloto S, Yang H, Schon EA, Garesse R, Bodmer R, Ocorr K, Cervera M, Arredondo JJ. Cardiac Deficiency of Single Cytochrome Oxidase Assembly Factor scox Induces p53 Dependent Apoptosis in a Drosophila Cardiomyopathy Model. Hum Mol Genet. 2015 Mar 19. pii: ddv106. PMID: 25792727.

From the abstract: "... most patients with mitochondrial disease produced by defects in the Oxidative Phosphorylation System (OXPHOS) are susceptible to cardiac involvement. ... One of the most frequent OXPHOS defect in humans frequently associated with cardiomyopathy is cytochrome c oxidase (COX) deficiency caused by mutations in COX assembly factors like Sco1 and Sco2. ... we have heart specifically interfered scox, the single Drosophila Sco orthologue. Cardiac-specific knockdown of scox reduces fly lifespan, and it severely compromises heart function and structure, producing dilated cardiomyopathy. ... Genetic and molecular evidence strongly suggests that dp53 is directly involved in the development of the cardiomyopathy induced by scox deficiency. Remarkably, apoptosis is enhanced in the muscle and liver of Sco2 knock-out mice, clearly suggesting that cell death is a key feature of the COX deficiencies produced by mutations in Sco genes in humans."