A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations

@article{Mllers2005ANM,
  title={A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations},
  author={Myriam M{\"o}llers and Katharina Maniura-Weber and Emina Kiseljakovi{\'c} and Maria Bust and Armine Hayrapetyan and M. Jaksch and Mark Helm and Rudolf Josef Wiesner and J{\"u}rgen-Christoph von Kleist-Retzow},
  journal={Nucleic Acids Research},
  year={2005},
  volume={33},
  pages={5647 - 5658}
}
We have studied the consequences of two homoplasmic, pathogenic point mutations (T7512C and G7497A) in the tRNA(Ser(UCN)) gene of mitochondrial (mt) DNA using osteosarcoma cybrids. We identified a severe reduction of tRNA(Ser(UCN)) to levels below 10% of controls for both mutations, resulting in a 40% reduction in mitochondrial protein synthesis rate and in… CONTINUE READING