title: Respiratory function in cybrid cell lines carrying European mtDNA haplogroups: implications for Leber's hereditary optic neuropathy.
abstract: The possibility that some combinations of mtDNA polymorphisms, previously associated with Leber's hereditary optic neuropathy (LHON), may affect mitochondrial respiratory function was tested in osteosarcoma-derived transmitochondrial cytoplasmic hybrids (cybrids). In this cellular system, in the presence of the same nuclear background, different exogenous mtDNAs are used to repopulate a parental cell line previously devoid of its original mtDNA. No detectable differences in multiple parameters exploring respiratory function were observed when mtDNAs belonging to European haplogroups X, H, T and J were used. Different possible explanations for the previously established association between haplogroup J and LHON 11778/ND4 and 14484/ND6 pathogenic mutations are discussed, including the unconventional proposal that mtDNA haplogroup J may exert a protective rather than detrimental effect.
authors.affiliation: Istituto di Clinica Neurologica, Università di Bologna, Bologna, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.forename: Lodovica
authors.initials: L
authors.lastname: Vergani
authors.forename: Barbara
authors.initials: B
authors.lastname: Bernazzi
authors.forename: Claudia
authors.initials: C
authors.lastname: Zampieron
authors.forename: Laura
authors.initials: L
authors.lastname: Bucchi
authors.forename: Maria
authors.initials: M
authors.lastname: Valentino
authors.forename: Chiara
authors.initials: C
authors.lastname: Rengo
authors.forename: Antonio
authors.initials: A
authors.lastname: Torroni
authors.forename: Andrea
authors.initials: A
authors.lastname: Martinuzzi
mesh_terms: D002999:Clone Cells; D003470:Culture Media; D004272:DNA, Mitochondrial / Q000235:genetics / Q000378:metabolism*; D042967:Electron Transport Complex I; D004791:Enzyme Inhibitors / Q000494:pharmacology; D005060:Europe; D006801:Humans; D006822:Hybrid Cells; D009154:Mutation; D009247:NADH, NADPH Oxidoreductases / Q000037:antagonists & inhibitors; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000378:metabolism*; D010101:Oxygen Consumption / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D012402:Rotenone / Q000494:pharmacology; D014407:Tumor Cells, Cultured
chemical_list: D003470:Culture Media; D004272:DNA, Mitochondrial; D004791:Enzyme Inhibitors; D012402:Rotenone; D009247:NADH, NADPH Oxidoreductases; D042967:Electron Transport Complex I