caa a22 4500 397575149 CHVBK 20180308164853.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.123 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.123 Complex I deficiency is Associated with 3243G:C Mitochondrial DNA in Osteosarcoma Cell Cybrids [Elektronische Daten] [D. R. Dunbar, P. A. Moonie, M. Zeviani, I. J. Holt] 143B.206 ρ° 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. © 1996 Oxford University Press Dunbar D. R. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut Moonie P. A. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut Zeviani M. Istituto Nazionale Neurologico ‘Carlo Besta', Via Celoria, 20133 Milano, Italy aut Holt I. J. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 123-129 0964-6906 5:1<123 1996 5 hmg https://doi.org/10.1093/hmg/5.1.123 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.123 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Dunbar D. R. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut NATIONALLICENCE 700 1- Moonie P. A. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut NATIONALLICENCE 700 1- Zeviani M. Istituto Nazionale Neurologico ‘Carlo Besta', Via Celoria, 20133 Milano, Italy aut NATIONALLICENCE 700 1- Holt I. J. Department of Biochemical Medicine, Ninewells Hospital, Dundee, DD1 9SY, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 123-129 0964-6906 5:1<123 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford