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Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Abstract:

We investigated clinical and cellular phenotypes of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1). Twenty-one had Alpers syndrome, the commonest severe POLG1 autosomal recessive phenotype, comprising hepatoencephalopathy and often mtDNA depletion. The cellular mtDNA content reflected the genotype more closely than did clinical features. Patients with tissue depletion of mtDNA all had at least one allele with either a miss...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1093/hmg/ddn150

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Institution:
University of Oxford
Department:
Oxford, MSD, Obstetrics and Gynaecology
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Churchill Hospital, Medical Genetics Lab
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Churchill Hospital, Medical Genetics Lab
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Churchill Hospital, Medical Genetics Lab
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Obstetrics and Gynaecology
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Medical Research Council More from this funder
Wellcome Trust More from this funder
Royal Society More from this funder
National Commissioning Group More from this funder
Publisher:
Oxford University Press Publisher's website
Journal:
Human molecular genetics Journal website
Volume:
17
Issue:
16
Pages:
2496-2506
Publication date:
2008-08-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:2f108cf8-66c7-4fcc-b6df-fb7c0c2a86f3
Source identifiers:
100120
Local pid:
pubs:100120

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