Cambridge to lead new £50 million centre to study mitochondrial DNA diseases

The MRC Centre of Research Excellence (MRC CoRE) will be led by Professor Michal Minczuk of the University of Cambridge. It brings together leading experts from across disciplines to define how mutations in mitochondrial DNA (mtDNA) cause disease and translate that knowledge into therapies.

No cure currently exists for mitochondrial diseases, a group of genetic disorders that affect around 1 in 5000 people, leaving patients and their families facing significant unmet medical needs.

Mitochondria are tiny ‘organelles’ that sit within our cells, where they act like batteries, providing energy in the form of the molecule ATP to power the cells. Each mitochondrion has its own DNA, distinct from the rest of the human genome, which is comprised of nuclear DNA. 

Beyond inherited conditions, mtDNA mutations are increasingly linked to neurodegeneration, metabolic disease, cardiovascular failure and age-related deterioration. In affected individuals, mitochondrial dysfunction can contribute to severe disability, progressive decline and premature death.

Professor Minczuk from the MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences said: “Mitochondrial DNA diseases are devastating conditions that can have a huge impact on an individual’s life and on their families, and in many cases prove fatal. Our new Centre will provide pioneering approaches to understanding and treating these diseases.

“We will be building a long-term UK research platform with the scale, expertise and infrastructure needed to position the UK as a global leader in mitochondrial genome therapeutics.

“Our goal is to create the scientific foundations that will enable entirely new ways of treating these diseases and offer renewed hope to affected patients and families."

The MRC CoRE will harness emerging technologies to engineer the mitochondrial genome, delivering advanced models for study common disease-causing mtDNA mutations.

Led by the University of Cambridge, it will partner with the University of Birmingham, University of Manchester, Heidelberg University and the University of Queensland, as well as the Imagine Institute in Paris, charities including the Lily Foundation, and industrial partners worldwide. 

Dr Ceri Williams, Executive Director of Challenge Led Themes at the MRC, said: “The UK has been at the helm of mitochondrial science, having led on the development of mitochondrial replacement therapy which prevents the inheritance of mtDNA mutations.

“We are delighted to announce this new MRC CoRE, which builds on these foundations to bring together expertise from around the world and across sectors to make real progress towards understanding the root causes of mtDNA mutations.

“Taking an interdisciplinary approach to tackle these challenges has the potential to radically transform health research in this field, improving prevention, detection and treatment, boosting outcomes for patients and protecting families affected by the disease.” 

Liz Curtis, CEO and founder the Lily Foundation, said: “We’re proud to be a named partner in this initiative, an ambitious and collaborative project that has the potential to transform our understanding of mitochondrial disease. 

“By bringing together world-leading expertise and embedding patient perspectives from the outset, this programme reflects exactly the kind of strategic, forward-looking research we want to support. 

“Our role as a patient charity partner is to help ensure that the priorities of families shape the research, while also investing directly into the next generation of scientists who will drive progress towards future treatments.”

Adapted from a press release from the Medical Research Council