Article
Rewriting nuclear epigenetic scripts in mitochondrial diseases as a strategy for heteroplasmy control.
EMBO molecular medicine - 1 Sept 2025
Pérez María J, Colombo Rocío B, Real Sebastián M, Branham María T, Laurito Sergio R, Moraes Carlos T, Mayorga Lía
Abstract excerpt
Mitochondrial diseases, caused by mutations in nuclear or mitochondrial DNA (mtDNA), have limited treatment options. For mtDNA mutations, reducing the mutant-to-wild-type mtDNA ratio (heteroplasmy shift) is a promising strategy, though it currently faces challenges. Previous research showed that severe mitochondrial dysfunction triggers an adaptive nuclear epigenetic response, through changes in DNA methylation,...
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