UCL Queen Square Institute of Neurology



An integrated phenotyping and mouse model generation platform for mitochondrial disease

MitoCluster, a consortium led by Dr Robert Pitceathly, was awarded £2.93 million by the Medical Research Council (MRC) National Mouse Genetics Network. Research funded by the consortium commenced in April 2022, aiming to enhance the current understanding and treatment of primary mitochondrial diseases (PMDs), and other human conditions involving mitochondrial dysfunction, such as neurodegeneration, cancer, and aging.  

This initiative brings together industry partners, patients, and world-class scientific and clinical experts in mitochondrial biology, PMDs, and mitochondrial genome-editing in mice. Our team is based at UCL, the Mary Lyon Centre at MRC Harwell, the University of Cambridge, the MRC Mitochondrial Biology Unit, Newcastle University, EBI’s European Bioinformatics Institute (EMBL), and the University of Padua, Italy.

MitoCluster is uniquely placed to target gaps in current pre-clinical research on human diseases affected by mitochondrial dysfunction. In particular, the consortium aims to maximise the clinical relevance of PMD mouse models by: (1) using novel mitochondrial genome-editing technology to generate mouse models with new pathogenic mitochondrial DNA variants; and (2) developing a phenotyping platform to evaluate the effects of mitochondrial dysfunction in mice at the Mary Lyon Centre. These will be used to study potential biomarkers and treatments for disease more effectively and expedite translation into human therapies.  

Stay informed with MitoCluster's progress on LinkedIn and Twitter (@MRCMitoCluster). For more detailed information, please visit our webpage and sign up for the Network newsletter.