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Article

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Nature genetics - 1 May 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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16582910
DOI: 10.1038/ng1765

Genes

MPV17
DGUOK
POLG
SUCLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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