Article
Mitochondrial DNA heteroplasmy in disease and targeted nuclease-based therapeutic approaches.
EMBO reports - 4 Mar 2020
Nissanka Nadee, Moraes Carlos T
Abstract excerpt
Mitochondrial DNA (mtDNA) encodes a subset of the genes which are responsible for oxidative phosphorylation. Pathogenic mutations in the human mtDNA are often heteroplasmic, where wild-type mtDNA species co-exist with the pathogenic mtDNA and a bioenergetic defect is only seen when the pathogenic mtDNA percentage surpasses a threshold for biochemical manifestations. mtDNA segregation during germline development...
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