Unravelling the molecular mechanisms of mitochondrial disease

Mitochondria are widely known for their ability to produce energy through a chain of complex enzymes. Typically, disorders of energy deficiency underly mitochondrial disease, affecting 1 in 5,000 individuals. The function of many disease-causing proteins remains elusive and therefore mechanisms of pathogenesis can be difficult to identify. This research shares novel insights into mitochondrial proteins that when mutated cause: (1) mtDNA depletion associated liver dysfunction; (2) metabolic disorder with optic atrophy and cataracts; and (3) fatal hypertrophic cardiomyopathy. Identification of molecular mechanisms of protein function may provide insights for the development of targeted clinical interventions.