Carnitine deficiency, mitochondrial dysfunction and the heart. Identical defect of oxidative phosphorylation in muscle mitochondria in cardiomyopathy due to carnitine loss and in Duchenne muscular dystrophy
Scholte, H.R.; Rodrigues Pereira, R.; Busch, H.F.; Jennekens, F.G.; Luyt-Houwen, I.E.; Vaandrager-Verduin, M.H.
Wiener Klinische Wochenschrift 101(1): 12-17
1989
ISSN/ISBN: 0043-5325 PMID: 2913721 Document Number: 342829
Cardiomyopathies are often caused by a metabolic defect. Carnitine deficiency and mitochondrial defects in the metabolism of acyl-CoA, including defects in oxidative phosphorylation, start the same circular mechanism of mitochondrial destruction. Patients with cardiomyopathy due to carnitine loss are cured by carnitine supplementation. In such a patient defective oxidative phosphorylation was found in isolated muscle mitochondria. The stimulation of the respiratory rate with all substrates by ADP was decreased, probably due to inhibition of the adenine nucleotide translocator by accumulation of long-chain acyl-CoA. The same condition was encountered in patients with Duchenne muscular dystrophy, who often develop cardiomyopathy in the course of the disease process.