Wong Lee-Jun C, Brunetti-Pierri Nicola, Zhang Qing, Yazigi Nada, Bove Kevin E, Dahms Beverly B, Puchowicz Michelle A, Gonzalez-Gomez Ignacio, Schmitt Eric S, Truong Cavatina K, Hoppel Charles L, Chou Ping-Chieh, Wang Jing, Baldwin Erin E, Adams Darius, Leslie Nancy, Boles Richard G, Kerr Douglas S, Craigen William J
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hepatology. 2007 Oct;46(4):1218-27. doi: 10.1002/hep.21799.
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.
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.
MPV17是一种线粒体内膜蛋白，其功能未知，最近被认为是导致线粒体DNA耗竭综合征的原因。本研究的目的是描述与MPV17基因突变导致的线粒体DNA耗竭相关的具体临床、病理、生化和分子特征。我们报告了来自3个不同种族家庭的4例MPV17基因突变病例。重要的是，其中2例在婴儿期出现孤立性肝功能衰竭，无明显神经功能障碍。
因此，我们建议在评估孤立性、快速进展性婴儿肝功能衰竭的分子病因时考虑MPV17基因突变。
