Cybrid models of mtDNA disease and transmission, from cells to mice

Ian A Trounce, Carl A Pinkert, JC StJohn (ed.)

Current Topics in Developmental Biology | ELSEVIER ACADEMIC PRESS INC | Published : 2007


Oxidative phosphorylation (OXPHOS) is the only mammalian biochemical pathway dependent on the coordinated assembly of protein subunits encoded by both nuclear and mitochondrial DNA (mtDNA) genes. Cytoplasmic hybrid cells, cybrids, are created by introducing mtDNAs of interest into cells depleted of endogenous mtDNAs, and have been a central tool in unraveling effects of disease-linked mtDNA mutations. In this way, the nuclear genetic complement is held constant so that observed effects on OXPHOS can be linked to the introduced mtDNA. Cybrid studies have confirmed such linkage for many defined, disease-associated mutations. In general, a threshold principle is evident where OXPHOS defects are..

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University of Melbourne Researchers