FORMATION OF THE ENZYME COMPLEX IN MITOCHONDRIA IS REQUIRED FOR FUNCTION OF TRIFUNCTIONAL BETA-OXIDATION PROTEIN

The first Japanese patient with mitochondrial trifunctional protein de ficiency has been identified. The patient's alpha- and beta-subunits w ere synthesized, transported into the mitochondria, and converted to t he mature size, but rapidly disappeared. The newly synthesized mature alpha- and beta-subunits in the control cells were incorporated into t he enzyme complex, alpha 4 beta 4, whereas those in the patient's cell s were present as monomers. We propose that formation of the enzyme co mplex is required for stabilization of trifunctional protein. (C) 1996 Academic Press, Inc.