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My research focuses on mitochondria, the cellular organelle that is known for producing energy for most cellular activities. Mitochondria are unusual among cellular organelles because they contain their own genome, the mtDNA. The mtDNA encodes proteins necessary for energy production and the rRNAs and tRNAs required for the synthesis of these proteins. We investigate the replication and recombination of mtDNA, and the regulation of expression of the mtDNA-encoded proteins.
Mutations of the mtDNA can result in a variety of human diseases, including neuromuscular diseases. Our studies seek to identify pathogenic mechanisms by which mtDNA mutations disrupt mitochondrial function. For example, one important group of mutations in mtDNA are those in the tRNA genes. We characterize the molecular mechanism by which mutations in tRNA genes disrupt the synthesis of mitochondrial proteins. We also seek ways to correct the deficiencies resulting from these tRNA gene mutations in human cells. These studies may identify therapies for the eventual treatment of human neuromuscular diseases caused by mutations in mtDNA.
My laboratory has pioneered the use of transmitochondrial cells as a model system to investigate pathogenic mechanisms of mtDNA mutations that result in human disease. We use a wide range of cellular, molecular, and biochemical tools to characterize our cellular models and to explore the mitochondrial genome and its expression. We are also developing cell-based assays to measure mitochondrial respiratory chain function and adapting these assays for high throughput screening.
I hope that our studies will permit us to develop strategies that will form the basis for rational treatments of patients suffering from mitochondrial diseases.
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- BA, Johns Hopkins University, Baltimore, MD, 1981
- Ph.D. California Institute of Technology, Pasadena, CA, 1987
- Postdoctoral Research Fellow, Division of Biology, California Institute of Technology, Pasadena, CA, 1987-1989
- Postdoctoral Research Fellow, Department of Neurology, Columbia University, New York, NY, 1990-1992
Mitochondrial Genetics
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Phone: (215) 503-4845
Fax: (215) 503-5393
Email: Michael.King@jefferson.edu
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