Germline selection shapes human mitochondrial DNA diversity

This study led by the University of Cambridge, published in Science, gives evidence that mitochondria (the cells “batteries” producing energy) interact with nuclear DNA, which was previously unknown.

“This discovery shows us that there’s a subtle relationship between the mitochondria and nuclei in our cells that we’re only just starting to understand,” Patrick Chinnery, Head of the Department of Clinical Neurosciences at the University of Cambridge and Wellcome Trust Principal Research Fellow, said. “What this suggests to us is that swapping mitochondria might not be as straightforward as just changing the batteries in a device.”

These findings could have implications for mitochondrial mitochondrial replacement therapy), said Chinnery, who previously worked with the team at Newcastle University pioneering this treatment. This technique is now licenced for use in the UK to prevent the transmission from mother to child of potentially devastating mitochondrial diseases. It involves substituting a mother’s nuclear DNA into a donor egg while retaining the donor’s mitochondria.

It is now important for the team to continue to research whether there are health issues for people that have unmatching mitochondrial DNA and nuclear DNA, to continue to develop better treatments for patients.

Full article: Wei, W et al. Germline selection shapes human mitochondrial DNA diversity. Science; 24 May 2019; DOI: 10.1126/science.aau6520

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