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  • Fachbereich Angewandte Naturwissenschaften (1)
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion (2006)
Spinazzola, Antonella ; Viscomi, Carlo ; Fernandez-Vizarra, Erika ; Carrara, Franco ; D'Adamo, Pio ; Calvo, Sarah ; Marsano, René Massimiliano ; Donnini, Claudia ; Weiher, Hans ; Strisciuglio, Pietro ; Parini, Rossella ; Sarzi, Emmanuelle ; Chan, Alicia ; DiMauro, Salvatore ; Rötig, Agnes ; Gasparini, Paolo ; Ferrero, Iliana ; Mootha, Vamsi K. ; Tiranti, Valeria ; Zeviani, Massimo
The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2, DGUOK and POLG, account for only a fraction of MDDS cases. We found a new locus for hepatocerebral MDDS on chromosome 2p21-23 and prioritized the genes on this locus using a new integrative genomics strategy. One of the top-scoring candidates was the human ortholog of the mouse kidney disease gene Mpv17. We found disease-segregating mutations in three families with hepatocerebral MDDS and demonstrated that, contrary to the alleged peroxisomal localization of the MPV17 gene product, MPV17 is a mitochondrial inner membrane protein, and its absence or malfunction causes oxidative phosphorylation (OXPHOS) failure and mtDNA depletion, not only in affected individuals but also in Mpv17-/- mice.
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