Brett A. Kaufman

About

Brett A. Kaufman, Ph.D., is a faculty member at the Perelman School of Medicine at the University of Pennsylvania, affiliated with the Department of Biochemistry. His primary research focus is on the regulation of mitochondrial chromatin and its effect on genome segregation, compaction, and expression. His work investigates how the mitochondrial genome is maintained and regulated, and how this regulation influences developmental and physiological aspects of mitochondrial function in health and disease. His research has implications in diabetes, aging, heart disease, and mitochondrial DNA-borne birth defects. Dr. Kaufman's research includes studying mutations affecting mitochondrial DNA (mtDNA) compaction in cardiovascular disease, the post-translational regulation of mtDNA compaction, environmental causes of mtDNA depletion, and the identification and characterization of protein-mtDNA complexes. He is a member of several research centers at the University of Pennsylvania, including the Mari Lowe Center for Comparative Oncology, the Center of Mitochondria and Epigenomic Medicine, the Institute for Diabetes, Obesity, and Metabolism, and the Center of Excellence in Environmental Toxicology. His educational background includes a B.S. in Biochemistry from Indiana University and a Ph.D. in Cell and Molecular Biology from the University of Texas Southwestern Medical Center at Dallas.

Research topics

• Biochemistry
• Cell biology
• Biology
• Immunology
• Chemistry

Selected publications

• Stress and circulating cell-free mitochondrial DNA: A systematic review of human studies, physiological considerations, and technical recommendations

  Mitochondrion · 2021-04-09 · 182 citations

  reviewOpen access

  Cell-free mitochondrial DNA (cf-mtDNA) is a marker of inflammatory disease and a predictor of mortality, but little is known about cf-mtDNA in relation to psychobiology. A systematic review of the literature reveals that blood cf-mtDNA varies in response to common real-world stressors including psychopathology, acute psychological stress, and exercise. Moreover, cf-mtDNA is inducible within minutes and exhibits high intra-individual day-to-day variation, highlighting the dynamic regulation of cf…

  PublisherDOI

• OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

  Communications Biology · 2023-01-12 · 143 citations

  articleOpen access

  Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic basis for this clinical picture remains unclear. By integrating data from 17 cohorts of patients with mitochondrial diseases (n = 690) we find evidence that these disorders increase resting energy expenditure, a state termed hypermetabolism. We examine this phenomenon longitudinally in patient-derived fibroblasts…

  PublisherOA PDFDOI

• Mitofusin 1 and 2 regulation of mitochondrial DNA content is a critical determinant of glucose homeostasis

  Nature Communications · 2022-04-29 · 94 citations

  articleOpen access

  The dynamin-like GTPases Mitofusin 1 and 2 (Mfn1 and Mfn2) are essential for mitochondrial function, which has been principally attributed to their regulation of fission/fusion dynamics. Here, we report that Mfn1 and 2 are critical for glucose-stimulated insulin secretion (GSIS) primarily through control of mitochondrial DNA (mtDNA) content. Whereas Mfn1 and Mfn2 individually were dispensable for glucose homeostasis, combined Mfn1/2 deletion in β-cells reduced mtDNA content, impaired mitochondri…

  PublisherOA PDFDOI

Recent grants

• Transduction of Psychological Stress into Systematic Inflammation by Mitochondrial DNA Signaling

  NIH · $3.4M · 2019–2026

• NIH Grant R01GM110424

  NIH · $1.9M · 2021

Frequent coauthors

• Martin Picard

  Columbia University

  43 shared

• J. Lilleberg

  Rice University

  28 shared

• Behnaam Aazhang

  Rice University

  24 shared

• Jill E. Kolesar

  University of Pittsburgh

  19 shared

• Céline Bris

  17 shared

• Cody A Rutledge

  University of Pittsburgh

  16 shared

• Vincent Procaccio

  Inserm

  16 shared

• Sruti Shiva

  14 shared

Labs

• Kaufman LabPI

Education

• Postdoc, Neurology and Neurosurgery

  McGill University

  2008

• Ph.D. Cell and Molecular Biology, Molecular Biology

  The University of Texas Southwestern Medical Center

  2003

• Honors BS in Biochemistry, Chemistry

  Indiana University Bloomington

  1995

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