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.
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 doom. Patients with cardiomyopathy due to carnitine loss are cured by carnitine supplementation. In such a patient we found defective oxidative phosphorylation in isolated muscle mitochondria. The stimulation of the respiratory rate with all substrates by ADP was decreased, probably the cause of inhibition of the adenine nucleotide translocator by accumulating long-chain acyl-CoA. The same condition was encountered in patients with Duchenne muscular dystrophy, who often get cardiomyopathy in the course of the disease process.
Scholte
H R
HR
Department of Biochemistry I, Erasmus University Rotterdam, The Netherlands.
Rodrigues Pereira
R
R
Busch
H F
HF
Jennekens
F G
FG
Luyt-Houwen
I E
IE
Vaandrager-Verduin
M H
MH
D000105:Acetyl Coenzyme A / Q000502:physiology; D009202:Cardiomyopathies / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004798:Enzymes / Q000097:blood; D006801:Humans; D007223:Infant; D008297:Male; D008929:Mitochondria, Heart / Q000502:physiology*; D008931:Mitochondria, Muscle / Q000502:physiology*; D009136:Muscular Dystrophies / Q000503:physiopathology*; D010085:Oxidative Phosphorylation
D004798:Enzymes; D000105:Acetyl Coenzyme A