Vockley Lab

The Vockley lab focuses on mitochondrial energy metabolism, branched chain amino acid metabolism, inborn errors of metabolism, and development of novel therapies for inborn errors of metabolism. The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes involved in fatty acid and amino acid metabolism which catalyze the transfer of electrons from various acyl-CoA esters to electron transfer flavoprotein. Biochemical and immunological studies have identified 11 distinct members of the ACD enzyme family, each with a narrow substrate specificity. Long, medium and short chain acyl-CoA dehydrogenases (LCAD, MCAD and SCAD) catalyze the first step in the b-oxidation cycle with substrate optima of 16, 8 and 4 carbon chains, respectively. Isovaleryl-CoA dehydrogenase (IVD) and 2-methyl branched chain acyl-CoA dehydrogenase (2-meBCAD) catalyze the third step in leucine and isoleucine/valine metabolism, respectively. The laboratory focuses on the use of molecular genetic techniques to investigate structure/function relationship in the ACD gene family at the molecular level and relate this information to mutations responsible for clinical deficiencies of these enzymes.  

Current Focus Areas

1. Analysis of the complex pathway of ACD maturation, focusing on the process of assembly of the enzymes 
2. Expression analysis and molecular modeling of mutant alleles from patients with deficiencies of mitochondrial enzymes 
3. Characterization of structure/function relationships important in the active site, tetramerization, and determination of substrate specificity
4. Novel therapy for deficiencies of mitochondrial enzymes
5. Functional and structural interactions of the three major pathways of mitochondrial energy pathway, and contribution of energy dysfunction to common diseases.

Affiliated Faculty and Staff

• Jerry Vockley, MD, PhD - Principal Investigator
• Shakuntala Basu, PhD - Research Technician
• Kaitlyn N. Bloom, PhD, FACMG - Postdoctoral Associate
• Frances Johnson
• Anuradha Karunanidhi - Senior Lab Manager
• Al-Walid Mohsen, PhD - Research Professor
• Brianna Karp Sokol - Administrative Assistant Senior
• Clinton Van't Land, PhD - Senior Research Scientist/Director of Metabolic Core
• Eduardo Vieira Neto, MD, PhD - International Postdoctoral Associate
• Yudong Wang, PhD - Assistant Professor of Pediatrics
• Xuejun Zhao, MD - Research Scientist

Recent Publications

Read a full list of current publications from Principal Investigator Jerry Vockley, MD, PhD at the NIH here.