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Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene
Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the c...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409892/ https://www.ncbi.nlm.nih.gov/pubmed/22824774 http://dx.doi.org/10.4103/1319-3767.98439 |
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author | AlSaman, Abdulaziz Tomoum, Hoda Invernizzi, Federica Zeviani, Massimo |
author_facet | AlSaman, Abdulaziz Tomoum, Hoda Invernizzi, Federica Zeviani, Massimo |
author_sort | AlSaman, Abdulaziz |
collection | PubMed |
description | Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate. |
format | Online Article Text |
id | pubmed-3409892 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-34098922012-08-03 Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene AlSaman, Abdulaziz Tomoum, Hoda Invernizzi, Federica Zeviani, Massimo Saudi J Gastroenterol Case Report Mitochondrial DNA depletion syndromes (MDSs) are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. Autosomal recessive mutations in MPV17 have been identified in the hepatocerebral form of MDS. We describe the clinical features, biochemical and molecular results of a Saudi infant with a new mutation of MPV17 and compared the features to those of previously reported cases. We stress the importance of such rare cases particularly in countries with high consanguineous marriage rate. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3409892/ /pubmed/22824774 http://dx.doi.org/10.4103/1319-3767.98439 Text en Copyright: © Saudi Journal of Gastroenterology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report AlSaman, Abdulaziz Tomoum, Hoda Invernizzi, Federica Zeviani, Massimo Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title | Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title_full | Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title_fullStr | Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title_full_unstemmed | Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title_short | Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene |
title_sort | hepatocerebral form of mitochondrial dna depletion syndrome due to mutation in mpv17 gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3409892/ https://www.ncbi.nlm.nih.gov/pubmed/22824774 http://dx.doi.org/10.4103/1319-3767.98439 |
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