I am a post-graduate student in the Chinnery lab at the IGM. I gained a BSc(Hons) in Genetics at the University of Glasgow before coming to Newcastle to start the MRes/PhD programme. The symbiotic relationship between mitochondria and the eukaryotic cell has always fascinated me. The emerging role of mitochondrial DNA in human disease means this is a fast expanding field of biology with many unanswered questions.
Identifying novel mitochondrial disease genes
Principal Investigators: Professor Patrick Chinnery,
Other staff members involved: Dr Gavin Hudson and Dr Aurora Gomez-Duran
Several nuclear encoded proteins are targeted to the mitochondria and are essential for mtDNA replication, the OXPHOS system and composition of nucleoid structures. My role is to try and determine the relationship between nuclear encoded proteins and the mitochondria and how these interactions could be contributing to human disease. Currently this project centres on PRDM9, a nuclear encoded histone methyl transferase. PRDM9 has DNA binding abilities through its zinc finger domains and has been shown to be associated with large genomic rearrangements. It is possible that DNA motifs recognised by PRDM9 are present in the mitochondrial genome and could potentially be responsible for increased mtDNA deletion formation. This employs several techniques including PCR, Sanger sequencing, Western blot and cell culture.
Sponsor/funder: Wellcome Trust Centre