In this episode of Energy in Action, Marcy Young talks with Dr. Bill Copeland about the science behind mitochondrialRelated to the mitochondria. DNA replication and what decades of research are revealing about mitochondrial disease. From POLG and Twinkle mutationsgenetic variant, genetic change to new approaches for diagnosis and treatment, Dr. Copeland shares the discoveries advancing the field and what gives him hope for the future of mito research.
Episode Highlights
The Research Unlocking Mitochondrial Disease
What happens when the machinery responsible for copying mitochondrial DNA doesn’t work the way it should? In this episode, Marcy Young talks with Dr. Bill Copeland, leader of the Mitochondrial DNA Replication Group at the National Institute of Environmental Health Sciences, about the science behind mitochondrial DNA replication and what his decades of research are revealing about mitochondrial disease. Dr. Copeland breaks down complex topics including POLG and Twinkle mutations, heteroplasmyApplies to variants in mitochondrial DNA. Homoplasmy is the presence of only one variant, in a given mitochondrial gene, in an individual. Heteroplasmy is the presence in an individual of two more var, mitochondrial DNA deletions, and the technique his team developed to detect deletions that conventional methods can miss. He also explains how this work is improving our understanding of disease and helping researchers identify new paths toward diagnosis and treatment.
Dr. Copeland also shares what gives him hope about where mitochondrial disease research is headed. From new discoveries about the structure and function of proteins involved in mitochondrial DNA replication to promising small-molecule approaches being investigated by researchers around the world, the field has changed considerably in recent years. Just as importantly, Dr. Copeland discusses why training the next generation of mitochondrial researchers and connecting directly with patients and families are essential to moving the science forward.
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