Improving the diagnostic outcomes of patients with mitochondrial disease

Summary This project employs extensive quantitative proteomics tools, as well as mammalian cell culture of patient and gene-edited hESC cells, analysis of human tissue samples, bioinformatics and computational biology, and metabolic and enzymatic measurments.

Project Details

Genetic disorders affecting mitochondrial OXPHOS constitute the most common form of inherited metabolic disease, affecting ~1/5000 births. There are few, if any proven treatments. The diagnosis rate for mitochondrial disease is only ~60% and those lucky enough to receive a molecular diagnosis often wait months or years. Our lab is developing the use of computational proteomics to complement the existing tools in the diagnosis of mitochondrial disease.

This project employs extensive quantitative proteomics tools, as well as mammalian cell culture of patient and gene-edited hESC cells, analysis of human tissue samples, bioinformatics and computational biology, and metabolic and enzymatic measurments. Discoveries are typically complemented by traditional biochemical and molecular biology studies to determine the roles of affected proteins in mitochondrial function, thus the project will also features classical molecular techniques such as mammalian cell culture, Blue-Native (BN) PAGE, western blotting, and metabolic measurements such as oxygen consumption and ATP production.