Journal article

Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon

Rocio Rius, Mark J Cowley, Lisa Riley, Clare Puttick, David R Thorburn, John Christodoulou



PURPOSE: A recent report has raised the possibility of biparental mitochondrial DNA (mtDNA) inheritance, which could lead to concerns by health-care professionals and patients regarding investigations and genetic counseling of families with pathogenic mitochondrial DNA variants. Our aim was to examine the frequency of this phenomenon by investigating a cohort of patients with suspected mitochondrial disease. METHODS: We studied genome sequencing (GS) data of DNA extracted from blood samples of 41 pediatric patients with suspected mitochondrial disease and their parents. RESULTS: All of the mtDNA variants in the probands segregated with their mother or were apparently de novo. There were no v..

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Awarded by National Health and Medical Research Council (NHMRC)

Awarded by NHMRC

Funding Acknowledgements

This research was supported by a New South Wales (NSW) Office of Health and Medical Research Council Sydney Genomics Collaborative grant (J.C.), National Health and Medical Research Council (NHMRC) project grant 1026891 (J.C.), NHMRC research fellowship 11022896 (D.R.T.), and a NSW Health Early-Mid Career Fellowship (M.J.C.). We are grateful to the Crane and Perkins families for their generous financial support. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.