Carlos T. Moraes, Ph.D.

Research

Mutations of either mtDNA or nDNA have been associated with devastating clinical syndromes. Organs with high energy requirements such as brain and muscle are preferentially affected. Symptoms include: seizures, strokes, muscle weakness, blindness, diabetes, and hearing loss. In addition to defining novel mtDNA abnormalities in patients with mitochondrial disorders, we are interested in understanding the molecular pathogenesis of these mutations and developing novel approaches to therapy. Currently we have four major funded projects:1) Development of genetic therapies for mitochondrial diseases. We are focusing on altering the ratio of mutant/wild-type mtDNA by the use of mitochondria-targeted endonucleases.2) Development of animal models to study the pathogenesis of mitochondrial disorders. 3) The role of cytochrome c in apoptosis and development. We have developed genetically modified mice with a defect in cytochrome c in various tissues. 4) Compensating for a defect in oxidative phosphorylation by increasing mitochondrial biogenesis.