Complex I deficiency is associated with 3243G

C mitochondrial DNA in osteosarcoma cell cybrids

D. R. Dunbar, P. A. Moonie, M. Zeviani, I. J. Holt

Research output: Contribution to journalArticle

86 Citations (Scopus)

Abstract

143B.206 p(O) cells were repopulated with mitochondria from a MELAS patient harbouring a mixture of 3243G:C and 3243A:T mitochondrial DNA. A number of biochemical assays were performed on selected cybrids with various proportions of the two types of mitochondrial DNA. These assays revealed a marked decrease in oxygen consumption with pyruvate, a complex I substrate, in cybrids containing 60% to 90% 3243G:C mitochondrial DNA. Moreover, these cybrids showed decreased synthesis of a number of polypeptides in a mitochondrial in vitro translation assay. A cybrid line with a very high level of 3243G:C mitochondrial DNA (95%) had additional deficiencies in complexes III and IV and there was a marked generalised decrease in mitochondrial translation in this cybrid. The observation of complex I deficiency is consistent with previously reported enzymatic measurements of muscle homogenates from MELAS patients with the 3243G:C mutation.

Original languageEnglish
Pages (from-to)123-129
Number of pages7
JournalHuman Molecular Genetics
Volume5
Issue number1
DOIs
Publication statusPublished - Jan 1996

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Osteosarcoma
Mitochondrial DNA
MELAS Syndrome
Cytochrome-c Oxidase Deficiency
Electron Transport Complex III
Pyruvic Acid
Oxygen Consumption
Mitochondria
Observation
Muscles
Peptides
Mutation

ASJC Scopus subject areas

  • Genetics

Cite this

Complex I deficiency is associated with 3243G : C mitochondrial DNA in osteosarcoma cell cybrids. / Dunbar, D. R.; Moonie, P. A.; Zeviani, M.; Holt, I. J.

In: Human Molecular Genetics, Vol. 5, No. 1, 01.1996, p. 123-129.

Research output: Contribution to journalArticle

Dunbar, D. R. ; Moonie, P. A. ; Zeviani, M. ; Holt, I. J. / Complex I deficiency is associated with 3243G : C mitochondrial DNA in osteosarcoma cell cybrids. In: Human Molecular Genetics. 1996 ; Vol. 5, No. 1. pp. 123-129.
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