(Abstracted from Reprod Biomed 2017;34:361–368) It is estimated that at least 1 in 5000 people in the general population has 1 mutation in mitochondrial DNA (mtDNA), which can cause maternally inherited mitochondrial disorders. When both mutant mitochondrial and wild-type (normal) genomes coexist (heteroplasmy), the severity of symptoms is associated with the level of mtDNA mutation load or degree of heteroplasmy.