... This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) . mitochondrial tRNA mutation obesity Dear Editor, We thank Dr. Finsterer for the inquiry regarding the report about...

...) of a single generation (of 3 alive generations) in this family. On pedigree analysis and sequencing of their mitochondrial DNA (mtDNA), a novel homoplasmic mutation of the mitochondrial tRNA Cys gene (5802A>G) was identified in these individuals. This mutation correlated with a destabilized conserved base...

... and biochemical phenotypes of corresponding fibres, and (ii) Northern-blot analyses of mitochondrial tRNA Tyr , tRNA Ile and tRNA Val . We demonstrated that both the G5835A tRNA Tyr and del4315A tRNA Ile mutation have serious functional consequences. Single-fibre analyses displayed a high threshold of the tRNA...