The Human Genetics Seminar Series has a new location and will be held on Fridays from 12 - 1 in A115 Public Health. Exceptions to this time and/or place are noted in the schedule below.
The Department of Human Genetics holds an annual guest lecture in honor of former faculty member Ching Chun "C.C." Li, Pitt Public Health faculty for over 30 years, former chair of the Department of Biostatistics, and celebrated statistician and geneticist. Stay tuned for more information about this year's lecture.
John Shaffer, PhD - The genetic architecture of human facial morphology
Inborn errors of energy metabolism are among the most common inherited disorders affecting ~1:5,000 people in the US. Three mitochondrial metabolic pathways are required for efficient energy production in eukaryotic cells – the electron transfer chain (ETC), fatty acid b-oxidation (FAO), and the tricarboxylic acid (TCA) cycle. The ETC is organized into inner mitochondrial membrane supercomplexes that promote substrate channeling and catalytic efficiency. While previous studies have suggested functional interaction between FAO and the ETC, their physical interaction had never been demonstrated. Studies in the Vockley lab have now shown for the first time that FAO enzymes physically interact with electron transfer chain supercomplexes at two points. The FAO trifunctional protein interacts with the NADH-binding domain of complex I of the ETC, while electron transfer flavoprotein dehydrogenase interacts with ETC complex III. In addition, the FAO enzyme very long chain acyl-CoA dehydrogenase (VLCAD) physically interacts with TFP, thus creating a multi-functional energy protein complex. These findings provide first view of an integrated molecular architecture for the major energy generating pathways in mitochondria that ensures the safe transfer of unstable reducing equivalents from FAO to the ETC. The impact of these findings on understanding the pathophysiology of inborn errors of energy metabolism, and the development of novel therapeutic agents based on patient specific bioenergetic and genetic characteristics will be presented.