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Expert Series: Understanding diseases of mitochondrial DNA maintenance

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This presentation will focus on the diseases that disrupt the normal process of copying our mitochondrialRelated to the mitochondria. DNA.  Dr. Copeland will summarize the genes (POLG, POLG2, TWNK, and SSBP1) that are involved in copying our mitochondrial DNA and how they participate in preventing or causing mutationsgenetic variant, genetic change in mitochondrial DNA.  Then he will focus on the diseases caused by mutations in these genes and the consequences of these mutations on mitochondrial function and health.

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DNA, expert series, genes, mitochondrial health

About the Speaker

William C. Copeland, PhD

William C. Copeland, PhD

William Copeland received his Ph.D. in chemistry/biochemistry from the University of Texas at Austin in 1988 under the supervision of Dr. Jon Robertus studying histidine decarboxylase. He then completed my postdoctoral training at Stanford University School of Medicine, Department of Pathology with Dr. Teresa Wang, studying the human DNA polymerase alpha/primase complex.  In 1993, he joined the National Institutes of Environmental Health Sciences, NIH, in Research Triangle Park, NC and is currently the head of the Mitochondrial DNA Replication Group in the Genome Integrity and Structural Biology Laboratory within the Intramural Research Division.  He is also the Chief of the Genome Integrity and Structural Biology department at the NIEHS.  Dr. Copeland has previously served as president of the Mitochondrion Research Society (2005 to 2007), as co-chair and chair of the UMDF grants committee (2005-2009), the UMDF Scientific and Medical Advisory Board (2009-2014), and the planning committee for the UMDF scientific symposium. 

The primary goal of the Mitochondrial DNA Replication Group is to understand the role of the replication apparatus in the production and prevention of mutations in mtDNA. Because the genetic stability of mtDNA depends on the accuracy of DNA polymerase gamma (pol γ), this project focuses on understanding the role of human pol γ in mtDNA mutagenesis. Furthermore, nearly 300 disease mutations in the POLG gene for the catalytic subunit of pol γ have been linked to several mitochondrial disorders, including progressive external ophthalmoplegia, sensory and ataxic neuropathy, Alpers syndrome, and male infertility. Dr. Copeland’s group studies the molecular effects of disease mutations in pol γ, its accessory subunit and the mitochondrial DNA helicase. He has more than 30 years of experience in research of mitochondrial DNA replication and has pioneered the characterization of the human DNA polymerase complex.  He was the first to clone and characterize the genes for the mitochondrial DNA polymerase, POLG, and the accessory subunit of this polymerase, POLG2.  The current projects address the role of human pol γ in mtDNA mutagenesis; study of the molecular effects of disease mutations in pol γ; and are elucidating the role of the human pol γ in induced mitochondrial toxicity caused by anti-HIV nucleoside analogs.  

Upcoming Events

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Jan 15
6:00 pm - 7:00 pm

CPEO & Me

Jan 16
12:00 pm - 2:45 pm

Mito Town Meeting 2026

Jan 20
8:30 pm

Our Space: A space for young adults with Mito and FAODs to connect and network

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Expert Series

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Jan 23
12:00 pm - 1:00 pm

Expert Series: Understanding TK2d and the KYGEVVI Approval

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Last Presentation

2026 Mito Town Meeting
Presented November 19, 2025

P.O. Box 310
Novi, MI 48376
(888) 648-6228
info@mitoaction.org

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