[August 9, 2011; Philadelphia, PA] – The United Mitochondrial Disease Foundation (UMDF) has awarded Penn Vet Assistant Professor Brett A. Kaufman a $120,000 grant to study the role that mtDNA copy number control plays in the development of disease. Dr. Kaufman’s grant was also selected for the UMDF Chairman’s Award for the top grant this year.
Mitochondria are small cellular structures that produce the chemical form of energy called ATP, which is essential for normal cell function. The production of ATP requires the coordinated assembly of enzymatic respiratory complexes, which consume oxygen in the process of synthesizing ATP. These respiratory complexes are encoded by both nuclear DNA and the mitochondrial genome (mtDNA). There are thousands of mtDNA copies per cell that contribute to ATP synthesis, and the maintenance and expression of mtDNA is essential to mitochondrial respiratory function and therefore proper cell function.
“Our aim is to make a rapid and fundamental impact on our understanding of mtDNA regulation in disease,” said Dr. Kaufman. “This work will increase our knowledge of molecular mechanisms regulating mtDNA copy number, and potentially, mitochondrial gene expression. With the technical support of collaborators and our departmental expertise, our lab is uniquely situated to conduct the experiments that will answer important questions about mtDNA content control.”
This work, said Dr. Kaufman, will allow researchers to better understand the mtDNA depletion syndromes and other complex human diseases whose pathogenesis involves mtDNA deletion or depletion, such as neurodegenerative diseases.
“We are happy that Dr. Kaufman’s project was selected for UMDF Research Grant funding in 2011,” said Charles A. Mohan, Jr., CEO, executive director of UMDF. “We are excited about the project and we look forward to receiving updates and progress reports as the research moves forward.”
Dr. Kaufman is an Assistant Professor in the Department of Animal Biology at Penn Vet. He earned his PhD in Cell and Molecular Biology from the University of Texas and his Bachelor’s degree in Biochemistry from Indiana University.
About the UMDF
The UMDF is the largest non-governmental funder of research towards better treatments and a potential cure for mitochondrial disease. To date, the UMDF has provided more than $8 million towards research funded by donations and fundraisers held by the UMDF. For more information about the organization, visit www.umdf.org.