Ganetzky Laboratory



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Research in the Ganetzky Lab focuses on inherited mitochondrial respiratory chain disease, with a goal of applying biochemical approaches to develop improved diagnostic modalities for mitochondrial disease, especially mitochondrial Complex V (CV; ATP Synthase) deficiency.

The Ganetzky lab team's research interests include disruptions of intermediary metabolism arising from mutations in the mitochondria DNA-encoded subunit of CV, MT-ATP6; zebrafish and cell models of mitochondrial CV deficiency; and the impact of nutrient manipulation on CV function.

The research group also has a strong focus in mitochondrial diseases that cause the biochemical abnormalities of elevated lactate and pyruvate. This work builds on clinical expertise in the field of mitochondrial medicine and especially primary lactic acidosis.

Current studies in the lab focus on the biochemical abnormalities that develop in human cell and zebrafish models of mitochondrial CV deficiency. The research group also is interested in utilizing data-driven approaches to improve biochemical diagnosis of mitochondrial disease.

Dr. Ganetzky is also the physician lead for the clinical trial of dichloroacetate in pyruvate dehydrogenase complex deficiency.

Project Highlights

  • Description of the nuclear gene USMG5 as an important cause of human Complex V deficiency
  • Determination of the biochemical effects of MT-ATP6 mutations on Complex V
  • Interaction between Complex V and carbonic anhydrase 5A
Rebecca D. Ganetzky

Rebecca D. Ganetzky, MD

Principal Investigator
Dr. Ganetzky is passionate about developing new biochemical strategies for accurate diagnosis and classification of inborn errors of energy metabolism. She has a particular focus on diseases of mitochondrial complex V (ATP Synthase).