Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease).

Abstract

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.

• Authors: S Koizumi, S Kyoya, T M Miyawaki, H Kidani, T Funabashi
• Journal: Clinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 77 Issue 3 Pg. 301-6 (Jun 15 1977) ISSN: 0009-8981 [Print] Netherlands
• PMID: 872430 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cytochrome P-450 Enzyme System
• Oxidoreductases
• Cholesterol Side-Chain Cleavage Enzyme

Topics

• Adrenal Glands (enzymology, ultrastructure)
• Adrenal Hyperplasia, Congenital
• Adrenocortical Hyperfunction (enzymology, genetics)
• Aged
• Cholesterol Side-Chain Cleavage Enzyme (metabolism)
• Cytochrome P-450 Enzyme System (analysis)
• Humans
• Infant, Newborn
• Infant, Newborn, Diseases (enzymology, genetics)
• Male
• Methods
• Middle Aged
• Mitochondria (enzymology)
• Oxidoreductases (metabolism)
• Pedigree