An Ex Vivo Human mtDNA Myopathy Model to Develop Therapies
Lay Abstract
POLG mutations cause mtDNA depletion and deletions in various tissues of the patients. These downstream mtDNA defects impair mitochondria and tissue function, leading to the disease state. One of the most affected tissues in POLG patients is skeletal muscle, presenting with myopathy, weakness, exercise intolerance, progressive ophthalmoplegia and some cases of dysphagia. Presently, there are no models where therapeutic approaches to improve the muscle dysfunction associated with mtDNA depletion and deletions could be tested. The goal of this project is to develop a robust human muscle model with mtDNA defects where therapeutic approaches could be tested for improvements in muscle function.
Institution
University of Miami, Miami, FL., USA
Link >Principle Investigator
Dr. Carlos Moraes
My independent group at the University of Miami was established in 1993 and one of its main focuses in the last decade has been the study of mitochondrial defects and neurodegenerative processes. We have used patients' cells and genetically modified mice to create models of mitochondrial disorders associated with defects in either nuclear or mitochondrial DNA. We are also focused on developing genetic treatments to mitochondrial DNA disorders, namely using mitochondria-targeted nucleases to eliminate mutated mtDNA.
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