title: Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
abstract: The role of phospholipids in normal assembly and organization of the membrane proteins has been well documented. Cardiolipin, a unique tetra-acyl phospholipid localized in the inner mitochondrial membrane, is implicated in the stability of many inner-membrane protein complexes. Loss of cardiolipin content, alterations in its acyl chain composition and/or cardiolipin peroxidation have been associated with dysfunction in multiple tissues in a variety of pathological conditions. The aim of this study was to analyze the phospholipid composition of the mitochondrial membrane in the four most frequent mutations in the ATP6 gene: L156R, L217R, L156P and L217P but, more importantly, to investigate the possible changes in the cardiolipin profile. Mitochondrial membranes from fibroblasts with mutations at codon 217 of the ATP6 gene, showed a different cardiolipin content compared to controls. Conversely, results similar to controls were obtained for mutations at codon 156. These findings may be attributed to differences in the biosynthesis and remodeling of cardiolipin at the level of the inner mitochondrial transmembrane related to some mutations of the ATP6 gene.
authors: Departamento de Biomedicina Cardiovascular, Instituto Nacional de Cardiología, Juan Badiano No 1 Tlalpan, Mexico, CP 14080, DF, Mexico.
authors: Mohammed
authors: M
authors: El-Hafidi
authors: Maria Chiara
authors: MC
authors: Meschini
authors: Teresa
authors: T
authors: Rizza
authors: Filippo M
authors: FM
authors: Santorelli
authors: Enrico
authors: E
authors: Bertini
authors: Rosalba
authors: R
authors: Carrozzo
authors: Martha Elisa
authors: ME
authors: Vázquez-Memije
mesh_terms: D019943:Amino Acid Substitution; D002308:Cardiolipins / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D006801:Humans; D015227:Lipid Peroxidation / Q000235:genetics; D008297:Male; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism*; D051336:Mitochondrial Membranes / Q000378:metabolism; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics / Q000378:metabolism*; D020125:Mutation, Missense; D012867:Skin / Q000378:metabolism*
chemical_list: D002308:Cardiolipins; C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases