Abstract 2641 An enzymology approach to understanding CoQ deficiency: unraveling the structure-function relationship of COQ5

Coenzyme Q (CoQ) is an essential lipid that functions as an electron carrier in the mitochondrial electron transport chain. In its reduced form (CoQH2), it can also act as a chain-terminating antioxidant providing protection against lipid peroxidation and ferroptosis. Genetic defects in the CoQ biosynthetic pathway in humans can cause a wide array of illnesses, including cardiovascular, kidney, and neurodegenerative disorders, through a condition known as primary CoQ deficiency. We focus on COQ5, a gene encoding an S-adenosylmethionine (AdoMet)-dependent C-methyltransferase in the CoQ biosynthetic pathway.