Regulation of 3-hydroxy-3-methylglutaryl coenzyme-A reductase activity in type II hyperlipoproteinaemia.
The regulation of 3-hydroxy-3-methylglutaryl coenzyme-A reductase activity in leucocytes was studied in a family with familial type II hyperlipoproteinaemia (WHO classification). The propositus was heterozygous and 16 other members of the family were studied. Leucocytes were isolated by a relatively quick and simple procedure and used for enzyme estimations. The results suggest that measurement of the regulation of this enzyme in leucocytes may be helpful in the diagnosis and management of the condition.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000429:Alcohol Oxidoreductases / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D004794:Enzyme Repression; D005260:Female; D006801:Humans; D006903:Hydroxymethylglutaryl CoA Reductases / Q000097:blood*; D006937:Hypercholesterolemia / Q000201:enzymology*; D006949:Hyperlipidemias / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008077:Lipoproteins, LDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014280:Triglycerides / Q000097:blood; D014973:Xanthomatosis / Q000201:enzymology
D008077:Lipoproteins, LDL; D014280:Triglycerides; D002784:Cholesterol; D000429:Alcohol Oxidoreductases; D006903:Hydroxymethylglutaryl CoA Reductases