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.
Learn More About MitoAction
Website: https://www.mitoaction.org
Facebook: https://www.facebook.com/MitoAction
Instagram: https://www.instagram.com/mitoaction
ENERGY IN ACTION - EPISODE 096 Employed with Mito Disease Bill, Tasia and Nina are all mito warriors navigating employment despite the challenges of...
After losing three family members to POLG-related mitochondrial disease, Heather Schichtel has made it her mission to help create a better future for patients...
Stephanie and Tasia return to Energy in Action to honor their beloved friend Katie—a fierce advocate, deep thinker, and unforgettable presence in the rare...