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MRC Mitochondrial Biology Unit


Professor Patrick Chinnery jointly led in the first population-scale study on how common metabolites in the blood are influenced by variations in the DNA of mitochondria (mtDNA) – the powerhouses of human cells.

This collaboration between scientists at the Wellcome Sanger Institute, the University of Cambridge and others, identified associations between mtDNA variants and an amino-acid, N-formylmethionine (fMet) which is essential for mitochondrial to make their own proteins. They also showed the effects of fMet on the risk of developing a range of common, late-onset illnesses.

The study, published in Nature Medicine, found that higher fMet levels are associated with increased risk of a wide range of late-onset diseases and all-cause mortality, demonstrating fMet’s potential as a biomarker of ageing and disease risk, as well as the importance of research into mitochondrial DNA variants. For further details, please see the Wellcome Sanger Institute’s full press release.

Full publication reference:

Na Cai, Aurora Gomez-Duran and Ekaterina Yonova-Doing et al. (2021). Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases. Nature Medicine.