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Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
Author(s) -
Wong LeeJun C.,
BrunettiPierri Nicola,
Zhang Qing,
Yazigi Nada,
Bove Kevin E.,
Dahms Beverly B.,
Puchowicz Michelle A.,
GonzalezGomez Ignacio,
Schmitt Eric S.,
Truong Cavatina K.,
Hoppel Charles L.,
Chou PingChieh,
Wang Jing,
Baldwin Erin E.,
Adams Darius,
Leslie Nancy,
Boles Richard G.,
Kerr Douglas S.,
Craigen William J.
Publication year - 2007
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.21799
Subject(s) - liver failure , gene , genetics , mutation , medicine , biology
MPV17 is a mitochondrial inner membrane protein of unknown function recently recognized as responsible for a mitochondrial DNA depletion syndrome. The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations. We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction. Conclusion: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure. (H EPATOLOGY 2007.)