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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...

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Autores principales: AlSaman, Abdulaziz, Tomoum, Hoda, Invernizzi, Federica, Zeviani, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
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.
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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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