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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

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Publisher copy:
10.1093/hmg/ddn150

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Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Women's and Reproductive Health
Role:
Author
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Wellcome Trust More from this funder
Medical Research Council 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:
2008-08-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
100120

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