Mitochondria are sub-microscopic organelles present in every cell. They convert the breakdown products of food into a form of energy the cell needs to function and survive. An unfortunate by-product is the generation of toxic oxygen free radicals that can damage DNA within each mitochondrion. With a limited capacity for repair, these mutations are passed down the maternal line, where they predispose to disease, can shorten our lifespan, and are threatening our own survival. New biological insights have cast light on the mechanisms involved, but is Homo sapiens facing mutational meltdown?
Patrick Chinnery is Professor of Neurology at the University of Cambridge, head of the Department of Clinical Neurosciences and an Honorary Consultant Neurologist at Cambridge University Hospitals NHS Trust. He is a Wellcome Trust Principal Research Fellow with a lab based in the MRC Mitochondrial Biology Unit and jointly chairs the NIHR BioResource for Translational Research in Common and Rare Diseases. He was elected a Fellow of the Academy of Medical Sciences in 2009 and was appointed as MRC Clinical Director in 2019.
Patrick’s principal research interest is in understanding the role of mitochondria in human disease and developing new treatments for mitochondrial disorders. His research has involved the identification of mitochondrial and nuclear gene defects responsible for mitochondrial disorders, dissecting out the downstream disease mechanisms, and studying the molecular and cellular basis of mitochondrial DNA inheritance. Patrick leads the clinical translational research programme studying the natural history of mitochondrial diseases, with the aim of developing new treatments through investigator-led experimental medicine studies.
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