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Dr. Mikhail Alexeyev, associate professor of physiology and cell biology at the University of South Alabama College of Medicine, recently was awarded a research grant from the National Institutes of Health to study mitochondrial diseases caused by mutations in mitochondrial DNA (mtDNA).
Dr. Alexeyev is using the award to gain insight into the mechanisms of mitochondrial disease by developing experimental models of mitochondrial disorders. “Mitochondrial disorders are the most common metabolic diseases,” Dr. Alexeyev explained. “They can be severe, affect multiple organs - especially the nervous, musculoskeletal and cardiovascular systems - and are often fatal.”
Dr. Alexeyev said mitochondrial disorders have been recognized for approximately 30 years, but still remain poorly understood. Mitochondrial diseases caused by mutations in mtDNA are a significant source of morbidity and mortality, yet only supportive care is available to affected patients.
“The lack of effective therapies for mitochondrial diseases is directly attributable, at least in part, to the lack of experimental models,” Dr. Alexeyev said.
USA has developed a method for controlled mutagenesis of animal mtDNA and has generated the world’s largest collection of animal cell lines with mutations in mtDNA. Dr. Alexeyev is combining the expertise developed at USA with that of Dr. Douglas Wallace, director of the Center for Mitochondrial and Epigenomic Medicine at the Children’s Hospital of Philadelphia (CHOP), for the project.
Dr. Wallace’s lab is one of only two in the world that has expertise in moving mutant mitochondrial DNA from cultured cells into the models.
Dr. Alexeyev said combining the mtDNA mutagenesis expertise at USA with the transmitochondrial expertise at CHOP to produce new experimental models of mitochondrial disease will be instrumental in developing a better understanding of the disease process and testing new drugs.
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