Mitochondrial dysfunction has been implicated in a number of brain disorders. Traditionally, mitochondria and mitochondrial DNA (mtDNA) have been thought to be exclusively maternally inherited in humans. In this report, Luo and colleagues identified three unrelated multigeneration families with a high level of mtDNA heteroplasmy. A comprehensive exploration of mtDNA segregation in these families shows biparental mtDNA transmission with an autosomal dominant-like inheritance. The authors suggest that, while the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring.

Elucidating the molecular mechanism for this unusual mode of inheritance will provide new insights into how mtDNA is passed on from parent to offspring and may lead to development of new therapeutic treatments for pathogenic mtDNA transmission.

Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS and Huang T: Biparental Inheritance of Mitochondrial DNA in Humans. Proc. Natl. Acad. Sci. USA 115(51): 13039-13044 (2018).

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