Institute of Genetic Medicine

Mitochondrial Research

Mitochondrial Research

Mitochondria are ubiquitous, with dysfunction affecting almost every cell type in the body.

Our research touches all aspects of mitochondrial function, from investigating mitochondrial DNA variation in the population and how this modulates disease, to identifying new therapies and preventative treatments for mitochondrial disease; and is enhanced by cross-cutting expertise from across the University.

Our investigations are enhanced by state-of-the-art genomics and facilities based at the Institute of Genetic Medicine (IGM) and close collaboration with the Wellcome Centre for Mitochondrial Research.

Clinically, Newcastle is at the forefront of mitochondrial diagnostics, treatment and prevention.

We work closely with our clinical colleagues at the Mitochondrial Diagnostic Service, ensuring that our research is intrinsically linked to patient welfare and enabling us to translate our findings to a clinical setting.

At the genetic level, we investigate the role of both inherited and acquired mitochondrial DNA (mtDNA) variants and how they modulate the penetrance of common diseases such as Parkinson's, Alzheimer's and multiple sclerosis.

As much of the mitochondrial proteome is encoded by the nuclear genome (nDNA), our research also includes whole genome and exome analysis of rare, Mendelian forms of mitochondrial disease, where mutations in nuclear encoded mitochondrial proteins can result in a secondary mitochondrial phenotype. At the protein level, we attempt to link genotype to phenotype, using established models and patient cell lines to investigate the effect of genetic variation on mitochondrial function and development.

We also work on mitochondrial homeostasis during early mammalian development and on the development of reproductive technologies to prevent transmission of mitochondrial DNA disease.   

As part of Wellcome Centre for Mitochondrial Research, we have developed a novel clinical treatment known as Mitochondrial Donation, which is offered as a clinical service at Newcastle Fertility Centre (housed in same building as the IGM).