UPMC Physician Resources

Brett Kaufman, PhD

Brett Kaufman, PhD

Education and Training

BS (Biochemistry)
Indiana University, 1995

PhD (Cell and Molecular Biology) 
University of Texas Southwestern Medical Center at Dallas, 2003

Research Interests

My long-standing research interest is to understand the contribution of mtDNA metabolism to disease progression. For 20 years I have been uncovering the fundamental processes that underlie mitochondrial respiratory deficiency with a focus on mtDNA stability and copy number control – processes essential for respiratory function and viability. My major research goals are 1) to define the biochemical events responsible for the maintenance of mtDNA content, 2) to understand how distinct pathways influence mtDNA maintenance, and 3) to understand mechanisms of mtDNA damage and resistance to damage in the context of disease. These goals are manifest in the following research projects:

Mechanisms of mtDNA integrity and expression. We are extending our understanding of how helicases interact with specific mtDNA sequences and structures to ensure genome stability and expression. We are employing the latest genome-wide high density sequencing approaches, super-resolution microscopy, and genome editing approaches to understand how deletions are formed and development respiratory dysfunction.

TFAM function in the genome stability. We are working to understand the role of the mitochondrial transcription and packaging factor TFAM in protecting the mitochondrial genome, controlling accessibility, and establishing mtDNA copy number. This work is being further extended to understand the process of regulating TFAM to these ends. Human, animal, and cell-based models are being are being used to identify regulatory networks that might be leveraged to improve genome stability and expression.

The role of mtDNA genome stability in cardiovascular disease. We are using human patient samples and animal models of cardiopulmonary diseases to understand the role of mitochondrial genome damage and reactive oxygen species in the susceptibility or progression of disease.

CME Courses

DOM Grand Rounds: Genome Editing & Sickle Cell Disease

DOM Grand Rounds: Genome Editing & Sickle Cell Disease

Publish Date: 4/27/2017
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