Antonella Spinazzola, Carlo Viscomi, Erika Fernandez-Vizarra, Franco Carrara, Pio D'Adamo, Sarah Calvo, René Massimiliano Marsano, Claudia Donnini, Hans Weiher, Pietro Strisciuglio, Rossella Parini, Emmanuelle Sarzi, Alicia Chan, Salvatore DiMauro, Agnes Rötig, Paolo Gasparini, Iliana Ferrero, Vamsi K Mootha, Valeria Tiranti, Massimo Zeviani
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...
May 2006: Nature Genetics