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Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Content Provider	PubMed Central
Author	Johanna, Uusimaa Evans, Julie Smith, Conrad Butterworth, Anna Craig, Kate Ashley, Neil Liao, Chunyan Carver, Janet Diot, Alan Macleod, Lorna Hargreaves, Iain Al-hussaini, Abdulrahman Eissa, Faqeih Ali, Asery Al, Bwi Md. Eyaid, Wafaa Al-sunaid, Areej Kelly, Deirdre Mourik, Indra Van Ball, Sarah Jarvis, Joanna Mulay, Arundhati Hadzic, Nedim Samyn, Marianne Baker, Alastair Rahman, Shamima Stewart, Helen Morris, Andrew Am Seller, Anneke Carl, Fratter Taylor, Robert W. Poulton, Joanna
Copyright Year	2014
Abstract	Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are severe autosomal recessive disorders associated with decreased mtDNA copy number in clinically affected tissues. The hepatocerebral form (mtDNA depletion in liver and brain) has been associated with mutations in the POLG, PEO1 (Twinkle), DGUOK and MPV17 genes, the latter encoding a mitochondrial inner membrane protein of unknown function. The aims of this study were to clarify further the clinical, biochemical, cellular and molecular genetic features associated with MDS due to MPV17 gene mutations. We identified 12 pathogenic mutations in the MPV17 gene, of which 11 are novel, in 17 patients from 12 families. All patients manifested liver disease. Poor feeding, hypoglycaemia, raised serum lactate, hypotonia and faltering growth were common presenting features. mtDNA depletion in liver was demonstrated in all seven cases where liver tissue was available. Mosaic mtDNA depletion was found in primary fibroblasts by PicoGreen staining. These results confirm that MPV17 mutations are an important cause of hepatocerebral mtDNA depletion syndrome, and provide the first demonstration of mosaic mtDNA depletion in human MPV17 mutant fibroblast cultures. We found that a severe clinical phenotype was associated with profound tissue-specific mtDNA depletion in liver, and, in some cases, mosaic mtDNA depletion in fibroblasts.
Related Links	http://dx.doi.org/10.1038/ejhg.2013.112
Ending Page	191
Page Count	8
Starting Page	184
File Format	PDF
ISSN	10184813
e-ISSN	14765438
Journal	European Journal of Human Genetics
Issue Number	2
Volume Number	22
Language	English
Publisher	Nature Publishing Group
Publisher Date	2014-02-01
Access Restriction	Open
Rights Holder	Nature Publishing Group
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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