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

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 4...

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Detalles Bibliográficos
Autores principales: Möllers, Myriam, Maniura-Weber, Katharina, Kiseljakovic, Emina, Bust, Maria, Hayrapetyan, Armine, Jaksch, Michaela, Helm, Mark, Wiesner, Rudolf J., von Kleist-Retzow, Jürgen-Christoph
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2005
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1240115/
https://www.ncbi.nlm.nih.gov/pubmed/16199753
http://dx.doi.org/10.1093/nar/gki876

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