Marisol Corral Debrinski
Researcher, Fondation Voir et Entendre
Dr. Marisol Corral-Debrinski, PhD. leads a research team at the newly opened Fondation Voir et Entendre in Paris, studying the role of mitochondria in diseases of the retina. Dr. Corral-Debrinski supervises the Methuselah Foundation's MitoSENS research team. She has published a series of papers on allotopic expression, including the initial demonstration of the significance of mRNA targeting in mitochondrial protein expression; the extension of this work to human cells, the successful allotopic expression of the ATP6 gene, and most recently the actual rescue of cells with mitochondrial DNA mutations by allotopic expression of the corresponding proteins.
The main objective of the institute's research 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. 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.
video
Optimized allotopic expression of mitochondrial genes: a strategy for treating mitochondrial DNA diseases