Branched Chain Alpha-Ketoacid Dehydrogenase Kinase (BCKDK)

Muscle biopsies from the vastus lateralis were obtained before and after 90 min of cycling at 65% VO2max in 12 women and 12 men. The women performed the exercise bout during the follicular (FOL, day 7–9) and luteal (LUT, day 19–21) phases. The men performed the exercise bout after eight days of ES (2 mg/d) and placebo (PL) supplementation, following a randomized, double-blind, cross-over design. Menstrual phase and ES had no influence on the mRNA content of AST, BCKD and BCKDK. Inactivating mutations in the BCKDK gene, which codes for the kinase responsible for the negative regulation of the branched-chain α-keto acid dehydrogenase complex (BCKD), have recently been associated with a form of autism in three families.