2016 Participants
Jack Collier
Mitochondria are complex cellular organelles which provide an energy source for the body. Mitochondrial dysfunction results in mitochondrial diseases, which are associated with a wide range of symptoms, severities, and age of onset. To investigate the molecular basis of a newly identified mitochondrial disease gene, RTN4IP1, a DNA editing technique called CRISPR/Cas9 was used to generate a human cell model that mimics the RTN4IP1 pathogenic mutation. This technique targets ‘molecular scissors’ to a specific locus within the genome, which cut the DNA and can introduce mutations. In order to engineer this cell model, CRISPR/Cas9 constructs were generated by molecular cloning and introduced into a human cell line. Thus generated cells harbouring specific mutations in the RTN4IP1 gene will be used to further characterise the role of RTN4IP1 in mitochondrial disease.
Funded Source: The Biochemical Society
Supervisors: Dr. Monika Oláhová, Prof Robert N. Lightowlers, Prof. Zofia M. A. Chrzanowska-Lightowlers and Prof. Robert W. Taylor