Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease).
An autopsied case with congenital lipoid adrenal hyperplasia (Prader disease) was presented. The cholesterol side-chain cleavage (SCC) enzyme activity in adrenal mitochondria of this case was assayed with [3H]cholesterol as substrate, combined with purified bovine adrenodoxin and adrenodoxin reductase, by measuring the amount of [3H]pregnenolone formed. The cytochrome P-450 content was also measured by recording the difference absorption spectra of carbon monoxide-complexed P-450. The cholesterol SCC enzyme activity in adrenal mitochondria of Prader disease was 0.81 nmol pregnenolone/nmol P-450 per min, which was approximately 10% of that in normal tissue. The content of cytochrome P-450 was 0.074 nmol/mg protein, which was about half of that in controls. These results indicate that there is a cholesterol SCC enzyme deficiency in adrenal mitochondria in this disease.
D000311:Adrenal Glands / Q000201:enzymology* / Q000648:ultrastructure; D000312:Adrenal Hyperplasia, Congenital; D000308:Adrenocortical Hyperfunction / Q000201:enzymology / Q000235:genetics; D000368:Aged; D002786:Cholesterol Side-Chain Cleavage Enzyme / Q000378:metabolism*; D003577:Cytochrome P-450 Enzyme System / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000201:enzymology* / Q000235:genetics; D008297:Male; D008722:Methods; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology*; D010088:Oxidoreductases / Q000378:metabolism*; D010375:Pedigree
D003577:Cytochrome P-450 Enzyme System; D010088:Oxidoreductases; D002786:Cholesterol Side-Chain Cleavage Enzyme