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MRC Mitochondrial Biology Unit


Published in Nature Genetics, a collaboration between Public Health and Primary Care, Clinical Neurosciences and the MRC Mitochondrial Biology Unit has shown that genetic variants of maternally-inherited mitochondrial DNA (mtDNA) modify our risk of developing common diseases including type 2 diabetes and multiple sclerosis, and also affect our liver and kidney function, and many different blood cell measurements.

Studying 358,916 UK Biobank participants, Kate Yonova-Doing and Claudia Calabrese working with Jo Howson and Patrick Chinnery, developed methods to study 553 mtDNA variants across the UK. Remarkably, mtDNA affects 227 different human phenotypes including the number of red cells and platelets in our blood. MtDNA and nuclear DNA are independently inherited, but some mtDNAs were more likely to be found in people with a Scottish, Welsh or Northumbrian nuclear genetic ancestry – implying the two genomes interact in the population.

Jo Howson said: “mtDNA has been largely ignored in large genetic studies. Here we show this small circular genome plays an important role in many common diseases, and should be factored in to future genetics analyses using the methods we have developed’. Patrick Chinnery said: “We were surprised to see how our mtDNA can influence so many human characteristics. Until recently, populations variants of mtDNA were thought to have no function. Here we show that DNA we inherit from our mother can even influence our height and how long we live”.

Publication Reference: Yonova-Doing, E et al. An atlas of mitochondrial DNA genotype-phenotype associations in the UK Biobank. Nature Genetics; 17 May 2021; DOI: 10.1038/s41588-021-00868-1

Photo by Bruno Nascimento on Unsplash