Thursday, 3rd December, 2015

14.30 - 15.30

Seminar Room, OS6, Second Floor, Oakfield House

Mitigating Mitochondrial Mutational Meltdown 

Abstract 

The synthesis of adenosine triphosphate is dependent on the mitochondrial genome (mtDNA), which codes for thirteen essential protein subunits of the mitochondrial respiratory chain. However, despite a critical role in cell homeostasis, mtDNA is prone to mutate and lacks many of the repair mechanisms present in the cell nucleus. Being exclusively inherited down the maternal line, mtDNA should collect mutations over time, eventually leading to extinction of the species. The mechanisms preventing ‘mtDNA mutational meltdown’ are not clear, but studies of families transmitting rare pathogenic mutations and deep sequencing of the human germ line is starting to cast light on the underlying biology. 

Biography

Patrick Chinnery FMedSci is a clinical neurologist with a sub-specialist interest in neurogenetics. A Wellcome Trust Senior Fellow in Clinical Science, he has been studying the molecular and biochemical basis of mitochondrial disorders for over two decades. Until recently he was Director of the Institute of Genetic Medicine and NIHR Biomedical Research Centre at Newcastle University. He has recently moved to the University of Cambridge as Professor of Neurology and Head of the Department of Clinical Neurosciences. His research laboratory is within the MRC Mitochondrial Biology Unit. He is an NIHR Senior Investigator (2010), was awarded the Foulkes Foundation Medal by the Academy of Medical Sciences (2011), and is a corresponding fellow of the American Neurological Association.  He jointly chairs the NIHR Rare Diseases Translational Research Collaboration, and is Deputy Chair of the MRC Neurosciences and Mental Health Board. 

ALL WELCOME