Studies of oxidative energy deficiency: I. Achondroplasia in the rabbit

Abstract

Defective oxidative energy formation with the absence of phosphorylation at the cytochrome oxidase region (site III) of the terminal respiratory system has been demonstrated to be present in isolated mitochondrial preparations from the livers of newborn achondroplastic rabbits. Normal-appearing littermates did not exhibit the defect. Terminal electron transport and oxidative activities of the terminal respiratory system as well as mitochondrial ATPase activity (coupling factor I) were similar in both normal and achondroplastic tissue preparations. No significant differences were detectable in the morphology of liver mitochondria from normal and achondroplastic littermates by electron microscopy examination.