Biography

Mitochondrial diseases can not be ignored anymore in most medical areas. Indeed, with a prevalence of one in 5000, they represent probably the most common form of metabolic disorders. Mitochondrial dysfunctions include specific and widespread organ involvement, with tissue degeneration or tumor formation. Ocular involvement is a frequent feature in mitochondrial diseases and leads to severe and irreversible lesions due to retinal neuron loss. We can hypothesize that among the 40 millions of blind people worldwide at least 5% present mutations in genes encoding mitochondrial proteins. Retinal dystrophies with mitochondrial etiology, as other mitochondrial disorders, are inaccessible to curative or palliative therapy. This is particularly disappointing since visual handicaps represent along with ailments affecting vital prognosis the most feared threat for health in our societies in which visual communication became essential. Therefore, the prospect of blindness prevention caused by mitochondrial retinopathies represents, in both scientific and socioeconomic terms, an impelling and achievable challenge within the current arena of biomedical research. We are using the phenomenon of mRNA sorting to the mitochondrial surface to develop a therapeutic strategy for replacing defective proteins inside the mitochondria of retinal cells.

Our main objective is to develop a gene therapy that could be both preventive and curative for optic neuropathies due to mutations in mitochondrial DNA (mtDNA) and subsequently will become available for an array of human disorders with mitochondrial etiology due to either mtDNA or nuclear DNA mutations.

Dr. Corral-Debrinski is hosting the Methuselah Foundation's MitoSENS research team, working to obviate the damaging effects of mitochondrial mutations in aging.

Marisol Corral-Debrinski's Abstract