title: Characterization of high density lipoproteins in patients heterozygous for Tangier disease.
abstract: In this study a large family group affectd with Tangier disease has been investigated. Besides two homozygous propositi, several heterozygous patients have been identified on the basis of quantitative measurements of high density lipoproteins and their constitutive polypeptides. By a variety of quantitative immunological methods, such as one-dimensional Laurell eletrophoresis, two-dimensional immunoelectrophoresis, and double-antibody radioimmunoassay, the total amount of apoprotein A-I and apoprotein A-I contained in the serum of heterozygous patients and the distribution of these A apoproteins among serum lipoproteins have been determined. The molar ration of apoprotein A-I and apoprotein A-II contained in high density lipoproteins of heterozygous patients did not significantly differ from that of control preparations, although the total mass of high density lipoproteins was reduced by approximately 50%. The elution profile of high density lipoproteins from agarose columns and their morphological appearance, as ascertained by electron microscopy, were similar to control preparations. In addition to the quantitative alterations of serum lipoproteins, lipid storage in histiocytes of the rectal mucosa obtained from heterozygous patients has been documented. It is concluded that patients heterozygous for Tangier disease have normal high density lipoproteins in circulation, the total mass of which is reduced by approximately 50%.
mesh_terms: D001053:Apolipoproteins / Q000097:blood; D002784:Cholesterol / Q000097:blood; D002850:Chromatography, Gel; D004587:Electrophoresis, Agar Gel; D005260:Female; D006579:Heterozygote; D006801:Humans; D007009:Hypolipoproteinemias / Q000235:genetics*; D007123:Immunoelectrophoresis, Two-Dimensional; D008075:Lipoproteins, HDL / Q000097:blood / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011863:Radioimmunoassay; D013631:Tangier Disease / Q000097:blood / Q000235:genetics*
chemical_list: D001053:Apolipoproteins; D008075:Lipoproteins, HDL; D002784:Cholesterol