Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
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 depletio...
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| Veröffentlicht in: | Hepatology (Baltimore, Md.) Md.), 2007-10, Vol.46 (4), p.1218-1227 |
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| creator | 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. |
| description | 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. (HEPATOLOGY 2007.) |
| doi_str_mv | 10.1002/hep.21799 |
| format | Article |
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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. (HEPATOLOGY 2007.)</description><identifier>ISSN: 0270-9139</identifier><identifier>EISSN: 1527-3350</identifier><identifier>DOI: 10.1002/hep.21799</identifier><identifier>PMID: 17694548</identifier><identifier>CODEN: HPTLD9</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; Disease Progression ; DNA, Mitochondrial - metabolism ; Electron Transport Chain Complex Proteins - metabolism ; European Continental Ancestry Group - ethnology ; European Continental Ancestry Group - genetics ; Female ; Gastroenterology. Liver. Pancreas. Abdomen ; Genetic Testing ; Hispanic Americans - ethnology ; Hispanic Americans - genetics ; Humans ; Infant ; Infant, Newborn ; Liver - metabolism ; Liver - pathology ; Liver Failure - diagnosis ; Liver Failure - ethnology ; Liver Failure - genetics ; Liver. Biliary tract. Portal circulation. Exocrine pancreas ; Male ; Medical sciences ; Membrane Proteins - genetics ; Mutation - genetics ; Other diseases. Semiology ; Pedigree ; Texas</subject><ispartof>Hepatology (Baltimore, Md.), 2007-10, Vol.46 (4), p.1218-1227</ispartof><rights>Copyright © 2007 American Association for the Study of Liver Diseases</rights><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3139-a9a3248b4d41735ece77094a20955284d3dccb40b42aaf1d16c5a8b76e266b523</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fhep.21799$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fhep.21799$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,778,782,1414,27907,27908,45557,45558</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=19167795$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17694548$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wong, Lee‐Jun C.</creatorcontrib><creatorcontrib>Brunetti‐Pierri, Nicola</creatorcontrib><creatorcontrib>Zhang, Qing</creatorcontrib><creatorcontrib>Yazigi, Nada</creatorcontrib><creatorcontrib>Bove, Kevin E.</creatorcontrib><creatorcontrib>Dahms, Beverly B.</creatorcontrib><creatorcontrib>Puchowicz, Michelle A.</creatorcontrib><creatorcontrib>Gonzalez‐Gomez, Ignacio</creatorcontrib><creatorcontrib>Schmitt, Eric S.</creatorcontrib><creatorcontrib>Truong, Cavatina K.</creatorcontrib><creatorcontrib>Hoppel, Charles L.</creatorcontrib><creatorcontrib>Chou, Ping‐Chieh</creatorcontrib><creatorcontrib>Wang, Jing</creatorcontrib><creatorcontrib>Baldwin, Erin E.</creatorcontrib><creatorcontrib>Adams, Darius</creatorcontrib><creatorcontrib>Leslie, Nancy</creatorcontrib><creatorcontrib>Boles, Richard G.</creatorcontrib><creatorcontrib>Kerr, Douglas S.</creatorcontrib><creatorcontrib>Craigen, William J.</creatorcontrib><title>Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy</title><title>Hepatology (Baltimore, Md.)</title><addtitle>Hepatology</addtitle><description>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. (HEPATOLOGY 2007.)</description><subject>Biological and medical sciences</subject><subject>Disease Progression</subject><subject>DNA, Mitochondrial - metabolism</subject><subject>Electron Transport Chain Complex Proteins - metabolism</subject><subject>European Continental Ancestry Group - ethnology</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Female</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Genetic Testing</subject><subject>Hispanic Americans - ethnology</subject><subject>Hispanic Americans - genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Liver - metabolism</subject><subject>Liver - pathology</subject><subject>Liver Failure - diagnosis</subject><subject>Liver Failure - ethnology</subject><subject>Liver Failure - genetics</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Mutation - genetics</subject><subject>Other diseases. 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Liver. Pancreas. Abdomen</topic><topic>Genetic Testing</topic><topic>Hispanic Americans - ethnology</topic><topic>Hispanic Americans - genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Liver - metabolism</topic><topic>Liver - pathology</topic><topic>Liver Failure - diagnosis</topic><topic>Liver Failure - ethnology</topic><topic>Liver Failure - genetics</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Mutation - genetics</topic><topic>Other diseases. 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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. (HEPATOLOGY 2007.)</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>17694548</pmid><doi>10.1002/hep.21799</doi><tpages>10</tpages></addata></record> |
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| subjects | Biological and medical sciences Disease Progression DNA, Mitochondrial - metabolism Electron Transport Chain Complex Proteins - metabolism European Continental Ancestry Group - ethnology European Continental Ancestry Group - genetics Female Gastroenterology. Liver. Pancreas. Abdomen Genetic Testing Hispanic Americans - ethnology Hispanic Americans - genetics Humans Infant Infant, Newborn Liver - metabolism Liver - pathology Liver Failure - diagnosis Liver Failure - ethnology Liver Failure - genetics Liver. Biliary tract. Portal circulation. Exocrine pancreas Male Medical sciences Membrane Proteins - genetics Mutation - genetics Other diseases. Semiology Pedigree Texas |
| title | Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy |
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