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Environmental Factor

July 2011

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Copeland chairs mitochondrial disease symposium

By Jeffrey D. Stumpf
July 2011

Bill Copeland, Ph.D.

Copeland, shown speaking at the symposium, has been a tireless advocate for people with mitochondrial disease. These diseases are often under-diagnosed or dismissed as too rare to attract substantial research investment. (Photo courtesy of UMDF)

Joel Meyer, Ph.D.

Meyer is an assistant professor of environmental toxicology at Duke University, where he earned his Ph.D. in 2003. (Photo courtesy of Duke University)

Miguel Garcia-Diaz, Ph.D.

Garcia-Diaz is an assistant professor of pharmacological sciences at Stony Brook University. (Photo courtesy of Miguel Garcia-Diaz) (Photo courtesy of Duke University)

As the importance of environmental health has been magnified in the treatment of mitochondrial diseases, NIEHS has teamed up with the United Mitochondrial Disease Foundation (UMDF)( Exit NIEHS to showcase research about mitochondrial toxicity to researchers, clinicians, and patients. To that end, NIEHS Laboratory of Molecular Genetics Acting Chief Bill Copeland, Ph.D.(, chaired the 2011 UMDF symposium in Schaumburg, Ill., that featured presentations by several NIEHS intramural researchers and grantees.

Mitochondrial diseases are a set of many multi-systemic diseases that result in debilitating and life-threatening symptoms, including extreme muscle fatigue, exercise intolerance, paralysis, and organ failure. These diseases may be fatal to infants, as well as go unnoticed until middle-aged adulthood. The symposium showcased research on mitochondrial and nuclear DNA disease-causing mutations, mechanisms for disease, and functions of mitochondria in diabetes. Researchers estimate that as many 1 in 2000 people may have a mitochondrial disorder, though many are poorly diagnosed.

UMDF was created in 1996, with the goal of promoting research and education in mitochondrial disorders, along with providing support to those affected. Since its foundation, UMDF has funded more than $7 million for research in the hope of improving diagnosis and treatment, as well as developing a cure for mitochondrial disease.

Putting the 'E' in UMDF

In addition to chairing the symposium, Copeland organized a session on mitochondrial toxicity. The session discussed environmental effects on mitochondrial diseases because pharmaceutical and environmental toxins often initially compromise mitochondrial function. "It has become apparent that the mitochondria is the 'canary in the coal mine' for the cell," Copeland said.

The mitochondrial toxicity session highlighted a multifaceted approach in talks from clinicians, industry, and academic researchers. Former NIEHS postdoctoral trainee and current NIEHS grantee, Joel Meyer, Ph.D.( Exit NIEHS, discussed his lab's research studying how mitochondrial DNA damage in the nematode C. elegans can be cleared by the natural turnover of mitochondria.

"Mitochondrial DNA is much more sensitive than nuclear DNA to many environmental genotoxins and, in many cases, the damage cannot be repaired," Meyer explained. "If mitochondrial dynamics is an important means of removing such damage, then people with impaired mitochondrial dynamics would be at greater risk."

NIEHS intramural research was also represented by abstract talks and poster presentations by the Mitochondrial DNA Replication Group, led by Copeland. The subjects of this research ranged from mouse and yeast models of mitochondrial dysfunction, to biochemical mechanisms of mitochondrial replication and disease.

"The goal of our group's research is to understand the origin of mutations in the mitochondrial DNA that cause disease," noted Copeland. "We are trying to understand how disease mutations in mitochondrial replication genes ameliorate normal DNA replication."

Another former NIEHS trainee and current grantee, Miguel Garcia-Diaz, Ph.D.( NIEHS, was awarded a research grant for his future studies in mitochondrial transcription. Being a private foundation, UMDF awards grant money received from numerous fundraisers to researchers who propose important mitochondrial research. As Garcia-Diaz pointed out, the awards are necessary for expanding studies on pathogenic mechanisms of mitochondrial disorders.

"The award will provide funds to initiate the study of tRNA maturation in mitochondria," said Garcia-Diaz. "Some of these processes have been associated with mitochondrial diseases and are thought to be affected by environmental exposures."

(Jeffrey Stumpf, Ph.D., is a postdoctoral fellow in the NIEHS Laboratory of Molecular Genetics Mitochondrial DNA Replication Group.)

Copeland recognized for service to the mitochondrial disease community

In addition to leading the mitochondrial DNA replication group, Bill Copeland, Ph.D. served as the UMDF Grant Review Committee Co-chairman and chairman from 2004-2008. Copeland continues to chair the UMDF research Policy Review Committee in addition to serving on the Scientific and Medical Advisory Board. He has been serving on the symposium planning committee for four years, including being 2011 Scientific Course Chair.

"Throughout the continuing tenure with the UMDF in various capacities, Dr. Copeland has been extremely knowledgeable, helpful, encouraging, and accessible," commented UMDF CEO/Executive Director Charles Mohan. "He is a real favorite among the UMDF administration and staff and we look forward to an ongoing relationship with Dr. Copeland for many years to come."

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