Biparental Inheritance of Mitochondrial DNA in Humans

TLDR

Mitochondria possess a separate genome that is normally inherited maternally in mammals, and paternal transmission has not been convincingly shown in humans. We identified biparental inheritance of mtDNA in three unrelated multi‑generation families, confirmed by independent sequencing, with an autosomal dominant‑like pattern that challenges the prevailing view and suggests new avenues for mitochondrial medicine.

Abstract

Significance The energy-producing organelle mitochondrion contains its own compact genome, which is separate from the nuclear genome. In nearly all mammals, this mitochondrial genome is inherited exclusively from the mother, and transmission of paternal mitochondria or mitochondrial DNA (mtDNA) has not been convincingly demonstrated in humans. In this paper, we have uncovered multiple instances of biparental inheritance of mtDNA spanning three unrelated multiple generation families, a result confirmed by independent sequencing across multiple unrelated laboratories with different methodologies. Surprisingly, this pattern of inheritance appears to be determined in an autosomal dominantlike manner. This paper profoundly alters a widespread belief about mitochondrial inheritance and potentially opens a novel field in mitochondrial medicine.