The assembly of mitochondrial protein complexes and defects in human disease

The assembly of mitochondrial protein complexes and defects in human disease is a Research Project for the Archived: Molecular Basis of Mitochondrial Disease Research Group, under the Centre for Innate Immunity and Infectious Diseases.

Project Leader

genetics2Mitochondria oxidize sugars and fats by oxidative phosphorylation (OXPHOS) and fatty acid oxidation (FAO) to generate energy for the cell. Defects in either of these two biochemical pathways can result in mitochondrial disease, which in many cases is fatal at an early age. This project will use cells from patients with mitochondrial disorders to investigate how defects in OXPHOS and FAO proteins cause disease. Induced pluripotent stem cells will be created and techniques such as Blue Native–PAGE and confocal microscopy used to examine mitochondrial dysfunction in specific cell types, including neurons and cardiomyocytes.