Abnormal high density lipoproteins in cerebrotendinous xanthomatosis
- Lawrence Livermore Lab., CA
The plasma lipoprotein profiles and high density lipoproteins (HDL) were characterized in patients with the genetic disease cerebrotendinous xanthomatosis (CTX). The mean HDL-cholesterol concentration in the CTX plasmas was 14.5 +/- 3.2 mg/dl, about one-third the normal value. The low HDL-cholesterol reflects a low concentration and an abnormal lipid composition of the plasma HDL. Relative to normal HDL, the cholesteryl esters are low, free cholesterol and phospholipids essentially normal, and triglycerides increased. The ratio of apoprotein (apo) to total cholesterol in the HDL of CTX was two to three times greater than normal. In the CTX HDL, the ratio of apoAI to apoAII was high, the proportion of apoC low, and a normally minor form of apoAI increased relative to other forms. The HDL in electron micrographs appeared normal morphologically and in particle size. The adnormalities in lipoprotein distribution profiles and composition of the plasma HDL result from metabolic defects that are not understood but may be linked to the genetic defect in bile acid synthesis in CTX. As a consequence, it is probable that the normal functions of the HDL, possibly including modulation of LDL-cholesterol uptake and the removal of excess cholesterol from peripheral tissues, are perturbed significantly in this disease.
- DOE Contract Number:
- W-7405-ENG-48
- OSTI ID:
- 7060853
- Journal Information:
- J. Clin. Invest.; (United States), Journal Name: J. Clin. Invest.; (United States) Vol. 68; ISSN JCINA
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MATERIALS
BLOOD
BLOOD PLASMA
BODY FLUIDS
CENTRIFUGATION
CHEMICAL ANALYSIS
CHOLESTEROL
DIAGNOSIS
DISEASES
ELECTRON MICROSCOPY
ELECTROPHORESIS
HEREDITARY DISEASES
HYDROXY COMPOUNDS
LIPIDS
LIPOPROTEINS
MATERIALS
MICROSCOPY
ORGANIC COMPOUNDS
PARTICLE SIZE
PATIENTS
PROTEINS
QUANTITATIVE CHEMICAL ANALYSIS
SEPARATION PROCESSES
SIZE
STEROIDS
STEROLS
TRANSMISSION ELECTRON MICROSCOPY
ULTRACENTRIFUGATION