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

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

Mitochondria contain their own genetic material: mtDNA. Each mitochondrion may contain several copies of their mtDNA, and the cell will generally contain many mitochondria. A mutation in an mtDNA can sometimes proliferate, resulting in an inhomogeneous population of wild-type and mutant mtDNA molecules. This is called heteroplasmy. The authors find that, for a particular mutation considered, changing the balance of wild-type to mutant mtDNAs, abrupt changes in the expression profile of the nuclear genome occurs, drawing an analogy with phase transitions.