Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming

Variation in the intracellular percentage of normal and mutant mitochondrial DNAs (mtDNA) (heteroplasmy) can be associated with phenotypic heterogeneity in mtDNA diseases. Individuals that inherit the common disease-causing mtDNA tRNA(Leu(UUR)) 3243A>G mutation and harbor ∼10–30% 3243G mutant mtD...

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Detalhes bibliográficos
Main Authors: Picard, Martin, Zhang, Jiangwen, Hancock, Saege, Derbeneva, Olga, Golhar, Ryan, Golik, Pawel, O’Hearn, Sean, Levy, Shawn, Potluri, Prasanth, Lvova, Maria, Davila, Antonio, Lin, Chun Shi, Perin, Juan Carlos, Rappaport, Eric F., Hakonarson, Hakon, Trounce, Ian A., Procaccio, Vincent, Wallace, Douglas C.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
Assuntos:
PNAS Plus
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4183335/
https://ncbi.nlm.nih.gov/pubmed/25192935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1414028111
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