Mitochondrial DNA maintenance, propagation and disease

Human cells contain two sources of DNA: the nucleus and the mitochondrial genome (mtDNA). mtDNA is essential to life as it is required for the respiratory chain, which produces the majority of the cell's usable energy. A cell requires thousands of identical copies of mtDNA, which must be replicated, separated and distributed evenly around the cell. Defects in either mtDNA replication or distribution impair respiration, leading to human mitochondrial diseases.

I aim to understand the molecular mechanisms of the termination of mtDNA replication in human cells: how mtDNA is resolved and how this leads to efficient distribution to the mitochondrial network. I will study how and when mtDNA molecules are untangled during replication. I will also study the contribution of mtDNA segregation to mitochondrial diseases and the formation of mtDNA deletions.

These studies will link together basic mechanisms of mitochondrial genetics, bioenergetics and human disease.