A defect in cholesterol esterification in Niemann-Pick disease (type C) patients

摘要: Abstract The demonstration of a defect cholesterol esterification in mutant strain BALB/c mice with an attendant reduction sphingomyelinase activity [Pentchev, P. G., Boothe, A. D., Kruth, H.S., Weintroub, H., Stivers, J. & Brady, R. O. (1984) Biol. Chem. 259, 5784-5791] prompted us to examine the capacity cultured human Niemann-Pick fibroblasts esterify exogenously derived cholesterol. Cholesterol was supplied cell cultures form native or chemically modified, positively charged low density lipoprotein as non-lipoprotein not impaired from patients type A B disease. However, administered deficient 20 C lines that were available for testing. Fluorescence histochemical staining unesterified cells suggested these able internalize and lysosomally process Acyl-CoA:cholesterol acyltransferase did appear extracts. The error may provide opportunity probing molecular lesion this disorder afford useful reliable means establishing diagnosis.