Hong Hong Chong

• MBBS (NUMed Malaysia)
• The importance of mitochondrial DNA population variation in the expression of mtDNA mutations

Mitochondrial diseases are life-limiting, chronic and progressive diseases that show an increase in symptom burden over time. Many are caused by mutations of mitochondrial DNA (mtDNA) which exhibit a high degree of clinical variability. Many diseases associated with mtDNA mutations are known and can be tested for diagnostically. However, much is yet unknown about the basic mechanisms of disease. A large number of mutations have been identified in the mitochondrial tRNA’s. tRNA’s are essential tools for building proteins which make up the machinery of processes in cells. These mutations are not evenly distributed over the 22 mt-tRNA’s. Some are hotspots for these devastating changes. This project will look at the population variability in each mt-tRNA and see if this is related to the number of disease-causing variants that have been identified. We will start with the European population, which is best studied and then move on to other populations.      

Funding source: Newcastle University

Project supervisor: Dr Joanna Elson