Surface expression of low density lipoprotein receptor in EBV-transformed lymphocytes: Characterization and use for studying familial hypercholesterolemia

Atherosclerosis

Volumn 131, Issue 2, 1997, Pages 149-160

  Chan, Pak Cheung ^a   Jones, Charlotte ^b   Lafrenière, René ^a   Parsons, Howard G ^a,c  

^a UNIVERSITY OF CALGARY   (Canada)

^b UNIVERSITY OF CALGARY   (Canada)

^c Departments of Medicine and Community Health Sciences   (Canada)

Author keywords

EBV transformed lymphocytes; Familial hypercholesterolemia; Low density lipoprotein receptor

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MEVINOLIN;

ADOLESCENT; ADULT; AGED; ARTICLE; ATHEROGENESIS; CHILD; CONTROLLED STUDY; CORONARY ARTERY DISEASE; EPSTEIN BARR VIRUS; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; HUMAN; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; ANTICHOLESTEREMIC AGENTS; B-LYMPHOCYTES; CELL CULTURE TECHNIQUES; CELL DIVISION; CELL MEMBRANE; CELL TRANSFORMATION, VIRAL; CHILD; DNA; FEMALE; FIBROBLASTS; HERPESVIRUS 4, HUMAN; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LOVASTATIN; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, GENETIC; RECEPTORS, LDL;

EID: 0030909149     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-9150(97)06086-3     Document Type: Article

References (58)

1. Goldstein JL, Brown MS, Anderson RGW, Russell DW, Schneider WJ. Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Ann Rev Cell Biol 1985;1:1-39.
2. Fagge CH. Xanthomatous diseases of the skin. Trans Pathol Soc London 1873;24:242-252.
3. Brown MS, Goldstein IL. Familial hypercholesterolemia: genetic, biochemical and pathological considerations. Adv Intern Med 1975;20:271-296.
4. Slack J. Inheritance of familial hypercholestoralemia. Atheroscler Rev 1979;5:35-66.
5. Yamamoto A, Kamiya T, Yamamura T et al. Clinical feature of familial hypercholesterolemia. Arterioscler Suppl 1989;I-66-74.
6. Goldstein JL, Hobbs HH, Brown MS. Familial Hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, (eds). The Metabolic Basis of Inherited Disease. New York: McGraw-Hill, 1995:1981-2030.
7. Soutar AK Familial Hypercholesterolemia and LDL receptor mutations. J Int Med 1992;231:633-641.
8. Brodff SW, Glade PR, Hirschtiorn K. Establishment of long-term lines from small aliquots of normal lymphocytes. Blood 1970;35(4):539-542.
9. Glade PR, Beratis NG. Long term lymphoid cell lines in the study of human genetics. Prog Med Genet 1976;1:148.
10. Dreyfus JC, Poenaru L, Lenoir. Lysosomal hydrolases in established lymphoid cell lines. Biomedicine 1980;33:78-80.
11. Salvagre R, Negre A, Maret A, Lenoir G, Douste-Blay L. Separation and properties of molecular forms of alpha-galactosidase and alpha-N-acetylgalactosaminidase from blood lymphocytes and lymphoid cell lines transformed by Epstein-Barr virus. Biochim Biophys Acta 1981;659:445-456.
12. Maret A, Potier M, Sahrayre R, Douste-Blay L. Modification of subunit interaction in membrane-bound acid beta-glucosidase from Gaucher disease. FEBS Lett 1983;160(1-2):93-97.
13. Salvayre R, Maret A, Negre A et al. Molecular forms of beta-N-acetylhexosaminidase in Epstein-Barr virus-transformed lymphoid cell lines from normal subjects and patients with Tay-Sachs disease. Eur J Biochem 1983;133:627-633.
14. Negre A, Salvayre R, Durand P, Lenoir G, Douste-Blay L. Enzyme studies on Epstein-Barr virus-transformed lymphoid cell lines from Wolman's disease. Lipases, cholesterol esterase and 4-methylumbelliferyl acyl ester hydrolases. Biochim Biophys Acta 1984;794(1):89-95.
15. Levade T, Salvayre R, Lenoir G, Douste-Blazy L. Sphingomyelinase and nonspecific phosphodiesterase activities in Epstein-Barr virus-transformed lymphoid cell lines from Niemann-Pick disease A, B and C. Biochim Biophys Acta 1984;793:321-324.
16. Levade T, Gatt S, Maret A, Salvayre R. Different pathways of uptake and degradation of sphingomyelin by lymphoblastoid cells and the potential participation of the neutral sphinglmyelinase. J Biol Chem 1991;266(21):13 519-13 529.
17. Lombardi P, de Wit E, Frants RR, Havekes LM. Characterization of the LDL receptor in Epstem-Barr virus-transformed lymphocytes. Biochim Biophys Acta 1990;1044:127-132.
18. Davignon J, Roy M. Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a 'founder effect'. Am J Cardiol 1993;72:6D-10D.
19. Havel RJ, Eder HA, Bragdon JH. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest. 1955;34:1345-1353.
20. Telpstra AHM, Woodward CJH Sanchez-Muniz FJ. Improved techniques for the separation of serum lipoproteins by density gradient ultracentrifugation: visualization by prestaining and rapid separation of serum lipoprotein from small volumes of serum. Anal Biochem 1980;111:149-157.
21. Peterson GL. A simplification of the protein assay method of Lowry et al. which is more generally applicable. Anal Biochem 1977;83:346-356.
22. Boyum A. Separation of lymphocytes, granulocytes and monocytes from human blood using iodinated density gradient media. Methods Enzymol 1984;108:88-102.
23. Neitzel H. A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 1986;73:320-326.
24. Pitas RE, Innerarity TL, Weinstein JN, Mahley RW. Acetoacetylated LDL used to distinguish fibroblasts from macrophages in vitro by fluorescence microscopy. Arteriosclerosis 1981;1:177-185.
25. Shapiro HM. Practical Flow Cytometry, 2nd edn. New York: Alan R.Liss, 1988;116.
26. Goldstein JL, Basu SK, Brown MS. Receptor-mediated endocytosis of LDL in cultured cells. Methods Enzymol 1983;98:241-260.
27. Traill KN, Jurgens G, Schonitzer D, Bock G, Huber L, Wick G. FACS analysis of low density lipoprotein binding to human peripheral blood lymphocytes. Immunoreg Aging 1986;1:185-190.
28. Lavergne JA, del Llano AM. Assessment of cellular activation by flow cytometric methods. Pathobiology 1990;58:107-117.
29. Galen RS, Gambino SR. Sensitivity, specificity, prevalence and incidence. In: Galen RS, Gambino SR, (eds). Beyond normality: the predictive value and efficiency of medical diagnoses. New York: Wiley, 1977;10-14.
30. Krouwer JS. Cumulative distribution analysis graphs-an alternative to ROC curves (Tech Brief). Clin Chem 1987;33:2305-2306.
31. Bluestein BL, Luderer AA, Hess D et al. Measurement of ferritin-bearing peripheral mononuclear blood cells in cancer patients by immnunoassays. Cancer Res 1984;44(9):4131-4136.
32. Reid MC, Lachs MS, Feinstein AR. Use of methodologic standards in diagnostic test research. Getting better but still not good. JAMA. 1995;274:645-651.
33. Chait A, Henze K, Mazzone T, Jensen M, Hammond W. Low density lipoprotein receptor activity in freshly isolated human monocytes and lymphocytes. Metabolism 1982;31:721-727.
34. Neckers LM. Regulation of transferrin receptor expression and control of cell growth. Pathobiology 1991;59:11-18.
35. Cuthbert J, Lipsky PE. Mitogenic stimulation alters the regulation of LDL receptor gene expression human lymphocytes. J Lipid Res 1990;31:2067-2078.
36. Huber LA, Bock G, Jurgens G, Traill KN, Schonitzer D, Wick G. Increased expression of high-affinity low-density lipoprotein receptors on human T-blasts. Int Arch Allergy Appl Immunol 1990;93:205-211.
37. Mazzone T, Basheeruddin K, Ping L, Schick C. Regulation of growth and sterol-related regulatory pathways for low density lipoprotein receptor gene expression. J Biol Chem 1990;265(9):5145-5149.
38. Kruth HS, Auigan I, Gamble W, Vaughan M. Effect of cell density of binding and uptake of low density lipoprotein by human fibroblasts. Cell Biol 1979;83:588-594.
39. Koivisto PVI, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia: DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb 1992;12(5):584-592.
40. Goldstein JL, Brown MS. The LDL receptor locus and the genetics of familial hypercholesterolemia. Ann Rev Genet 1979;13:259-289.
41. Benhamamouch S, Kusnierz IP, Agnani G, et al. Determination of the LDL receptor binding capacity of human lymphocytes by immunocytofluormetric assay. Biochim Biophys Acta 1988;1002:45-53.
42. Ho YK, Brown MS, Bilheimer DW, Goldstein. Regulation of low density lipoprotein receptor activity in freshly isolated human lymphocytes. J Clin Invest 1976;1465-1474.
43. Schmitz G, Bruning T, Kovacs E, Barlage S. Fluorescence flow cytometry of human leukocytes in the detection of LDL receptor defects in the differential diagnosis of hypercholesterolemia. Arterioscler Thromb 1993;13:1053-1065.
44. Loren TP, Sundvold H, Rodningen OK et al. Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia. Hum Genet 1995;95(6):671-676.
45. Kotze MJ, Langehhoven E, Theart L, Marx MP, Oosthuizen CJ. Report on a molecular diagnostic service for familial hypercholesterolemia in Afrikaners. Genet Couns 1994;5(1):15-21.
46. Humphries S, Taylor R, Jeenah M et al. Gene probes in diagnosis of Familial Hypercholesterolemia. Arterioscler Suppl I 1989;9(1):I59-I65.
47. Nssen H, Hansen AB, Guldberg P et al. Genetic diagnosis with the denaturing gradient get electrophoresis technique improves diagnostic precision in Familial Hypercholesterolemia. Circulation 1995;91:1641-1646.
48. Leren TP, Solberg K, Rodningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994;111:175-182.
49. Yamamoto A, Kamiya T, Yamamura T et al. Clinical features of Familial Hypercholesterolemia. Arteroscler Suppl I.1989;9(1):I66-I74.
50. Kwiterovich PO Jr. Pediatric implications of heterozygous familial hypercholesterolemia: screening and dietary treatment. Arterioscler Suppl I.1989;9(1):111-120.
51. Lestavel-Delattre S, Benhamaamouch S, Agnani G et al. Evidence of non-defident low density lipoprotein receptor patients in a pool of subjects with clinical familial hypercholesterolemia profile. Metabolism 1994;43:397-402.
52. Myant NB, Gallagher J, Knight BL et al. Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function. Arterioscler Thromb 1991;11:691-703.
53. Matsuo I, Yoshino K, Ozawa A, Ohkido M. Phytosterolemia and type IIa hyperlipoproteinemia with tuberous xanthomas. J Am Acad Dermatol 1981;4:47-49.
54. Low LCK, Lin HJ, Lau KS, Kung AWC, Yeung CY. Phytosterolemia and pseudohomoygous type II hypercholesterolemia in two Chinese patients. J Pediatr 1991;118:746-749.
55. Corsini A, Roma P, Sommariva D, Fumagalli R, Catapano AL. Autoantibody to the low density lipoprotein receptor in a subject affected by severe hypercholesterolemia. J Clin Invest 1986;78:940-946.
56. Sirtori CR, Catapano AL, Franceschini G et al. Aortic and coronary atheromatosis in a woman with severe hypercholesterolemia without LDL receptor alterations. Eur Heart J 1991;12:818-824.
57. Ranganathan S, Hattori H, Kashyap ML. A rapid flow cytometric assay for low density lipoprotein receptors in human peripheral blood mononuclear cells. J Lab Clin Med 1995;125:479-486.
58. Verhoeye FR, Descamps O, Husson B et al. An improved method for detection of low density lipoprotein receptor defects in human T lymphocytes. J Lipid Res 1996;37:1377-1384.