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, heteroplasmy, 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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