Ontology highlight
ABSTRACT:
SUBMITTER: Antonicka H
PROVIDER: S-EPMC2896764 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Antonicka Hana H Ostergaard Elsebet E Sasarman Florin F Weraarpachai Woranontee W Wibrand Flemming F Pedersen Anne Marie B AM Rodenburg Richard J RJ van der Knaap Marjo S MS Smeitink Jan A M JA Chrzanowska-Lightowlers Zofia M ZM Shoubridge Eric A EA
American journal of human genetics 20100701 1
We investigated the genetic basis for a global and uniform decrease in mitochondrial translation in fibroblasts from patients in two unrelated pedigrees who developed Leigh syndrome, optic atrophy, and ophthalmoplegia. Analysis of the assembly of the oxidative phosphorylation complexes showed severe decreases of complexes I, IV, and V and a smaller decrease in complex III. The steady-state levels of mitochondrial mRNAs, tRNAs, and rRNAs were not reduced, nor were those of the mitochondrial trans ...[more]