Seminar

Are population variants of mtDNA physiologically relevant?

José Antonio Enríquez Domíngu

Human mitochondrial DNA (mtDNA) shows extensive within-population sequence variability. We performed a comprehensive study on the physiological relevance of mtDNA sequence variability in mice. It understand the effects of mtDNA variants we systematically characterised conplastic mice throughout their lifespan through transcriptomic, metabolomic, biochemical, physiological and phenotyping studies.

José Antonio Enríquez graduated in Biochemistry and Molecular Biology at the Universidad Autónoma de Madrid and obtained his PhD from the Universidad de Zaragoza in 1992. From 1993 to 1997 he worked with Giuseppe Attardi at the California Institute of Technology, where he studied the pathogenic action of mutant mitochondrial tRNAs. His work in this period contributed to define the molecular mechanism underlying this phenomenon, and helped to establish the general methodologies for studying mitochondrial tRNAs. These methodologies have found application in studies of mitochondrial biogenesis and in the analysis of mtDNA-linked diseases. José Antonio established his own laboratory on his return to the Universidad de Zaragoza, where he became a Full Professor in 2007. He recently established a possible explanation for the phenotypes associated with common mouse mtDNA variants affecting ROS production. He joined the CNIC in 2009, where his work focuses on the molecular processes underlying the involvement of mitochondrial dysfunction in cardiovascular disease and ischemic processes.