Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

PLoS ONE

Volumn 9, Issue 11, 2014, Pages

  Etxebarria, Aitor ^a   Benito Vicente, Asier ^a   Alves, Ana C ^b,c   Ostolaza, Helena ^a   Bourbon, Mafalda ^b,c   Martin, Cesar ^a  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c UNIVERSITY OF LISBON   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCEIN ISOTHIOCYANATE; IODINE 125; LIPOPROTEIN; LOW DENSITY LIPOPROTEIN RECEPTOR; FLUORESCENT DYE; LDLR PROTEIN, HUMAN; LOW DENSITY LIPOPROTEIN;

ACCURACY; ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CHEMICAL LABELING; CLASS TYPE MUTATION; COMPUTER MODEL; CONCENTRATION (PARAMETERS); CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; FLOW CYTOMETRY; FLUORESCENCE ANALYSIS; GENE ACTIVITY; GENE FUNCTION; GENE MUTATION; GENETIC VARIABILITY; INTERMETHOD COMPARISON; LDLR GENE; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN TRANSPORT; REPRODUCIBILITY; WILD TYPE; ANIMAL; CHEMISTRY; CHO CELL LINE; COMPARATIVE STUDY; COMPUTER SIMULATION; CONFOCAL MICROSCOPY; CRICETULUS; GENETIC TRANSFECTION; GENETICS; HUMAN; METABOLISM; MUTATION; PROCEDURES;

ANIMALS; CHO CELLS; COMPUTER SIMULATION; CRICETULUS; FLOW CYTOMETRY; FLUORESCEIN-5-ISOTHIOCYANATE; FLUORESCENT DYES; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPOPROTEINS, LDL; MICROSCOPY, CONFOCAL; MUTATION; RECEPTORS, LDL; TRANSFECTION;

EID: 84914680437     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0112677     Document Type: Article

References (39)

1. Goldstein JL HH, Brown MS (2001) Familial hypercholesterolemia; C.R. Scriver ALB, W.S. Sly and D. Valle, Editors, editor. New York McGraw-Hill.
2. Ned RM, Sijbrands EJ (2011) Cascade Screening for Familial Hypercholesterolemia (FH). PLoS Curr 3: RRN1238.
3. Usifo E, Leigh SE, Whittall RA, Lench N, Taylor A, et al. (2012) Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment. Ann Hum Genet 76: 387-401.
4. Hobbs HH, Leitersdorf E, Goldstein JL, Brown MS, Russell DW (1988) Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions. J Clin Invest 81: 909-917.
5. Goldstein JL, Brown MS, Anderson RG, Russell DW, Schneider WJ (1985) Receptor-mediated endocytosis: concepts emerging from the LDL receptor system. Annu Rev Cell Biol 1: 1-39.
6. Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1: 445-466.
7. Davis CG, Lehrman MA, Russell DW, Anderson RG, Brown MS, et al. (1986) The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors. Cell 45: 15-24.
8. Lehrman MA, Goldstein JL, Brown MS, Russell DW, Schneider WJ (1985) Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain. Cell 41: 735-743.
9. Beglova N, Jeon H, Fisher C, Blacklow SC (2004) Cooperation between fixed and low pH-inducible interfaces controls lipoprotein release by the LDL receptor. Mol Cell 16: 281-292.
10. Leigh SE, Foster AH, Whittall RA, Hubbart CS, Humphries SE (2008) Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet 72: 485-498.
11. Silva S, Alves AC, Patel D, Malho R, Soutar AK, et al. (2012) In vitro functional characterization of missense mutations in the LDLR gene. Atherosclerosis 225: 128-134.
12. Knight BL, Soutar AK (1982) Changes in the metabolism of modified and unmodified low-density lipoproteins during the maturation of cultured blood monocyte-macrophages from normal and homozygous familial hypercholesterolaemic subjects. Eur J Biochem 125: 407-413.
13. Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rodningen OK, et al. (1997) Molecular genetics of familial hypercholesterolaemia in Norway. J Intern Med 241: 185-194.
14. Ranheim T, Kulseth MA, Berge KE, Leren TP (2006) Model system for phenotypic characterization of sequence variations in the LDL receptor gene. Clin Chem 52: 1469-1479.
15. Romano M, Di Taranto MD, Mirabelli P, D'Agostino MN, Iannuzzi A, et al. (2011) An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations. J Lipid Res 52: 2095-2100.
16. Sun XM, Patel DD, Knight BL, Soutar AK (1997) Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group. Arterioscler Thromb Vasc Biol 17: 3092-3101.
17. Tada H, Kawashiri MA, Noguchi T, Mori M, Tsuchida M, et al. (2009) A novel method for determining functional LDL receptor activity in familial hypercholesterolemia: application of the CD3/CD28 assay in lymphocytes. Clin Chim Acta 400: 42-47.
18. den Dunnen JT, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15: 7-12.
19. Taschner PE, den Dunnen JT (2011) Describing structural changes by extending HGVS sequence variation nomenclature. Hum Mutat 32: 507-511.
20. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
21. Ng PC, Henikoff S (2003) SIFT: Predicting amino acid changes that affect protein function. Nucleic Acids Res 31: 3812-3814.
22. Gonzalez-Perez A, Lopez-Bigas N (2011) Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel. Am J Hum Genet 88: 440-449.
23. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D (2010) MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 7: 575-576.
24. Grantham R (1974) Amino acid difference formula to help explain protein evolution. Science 185: 862-864.
25. Pollard KS, Hubisz MJ, Rosenbloom KR, Siepel A (2010) Detection of nonneutral substitution rates on mammalian phylogenies. Genome Res 20: 110-121.
26. Goldstein JL, Brown MS (1974) Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia. J Biol Chem 249: 5153-5162.
27. Soutar AK, Knight BL, Patel DD (1989) Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors. Proc Natl Acad Sci U S A 86: 4166-4170.
28. Dardik R, Varon D, Tamarin I, Zivelin A, Salomon O, et al. (2000) Homocysteine and oxidized low density lipoprotein enhanced platelet adhesion to endothelial cells under flow conditions: distinct mechanisms of thrombogenic modulation. Thromb Haemost 83: 338-344.
29. Hed J, Hallden G, Johansson SG, Larsson P (1987) The use of fluorescence quenching in flow cytofluorometry to measure the attachment and ingestion phases in phagocytosis in peripheral blood without prior cell separation. J Immunol Methods 101: 119-125.
30. Etxebarria A, Palacios L, Stef M, Tejedor D, Uribe KB, et al. (2012) Functional characterization of splicing and ligand-binding domain variants in the LDL receptor. Hum Mutat 33: 232-243.
31. Jeon H, Meng W, Takagi J, Eck MJ, Springer TA, et al. (2001) Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTDEGF domain pair. Nat Struct Biol 8: 499-504.
32. Minino AM, Xu J, Kochanek KD, Tejada-Vera B (2009) Death in the United States, 2007. NCHS Data Brief: 1-8.
33. Terzic A, Waldman S (2011) Chronic diseases: the emerging pandemic. Clin Transl Sci 4: 225-226.
34. Waldman SA, Terzic A (2011) Cardiovascular health: the global challenge. Clin Pharmacol Ther 90: 483-485.
35. Alves AC, Medeiros AM, Francisco V, Gaspar IM, Rato Q, et al. (2010) Molecular diagnosis of familial hypercholesterolemia: an important tool for cardiovascular risk stratification. Rev Port Cardiol 29: 907-921.
36. Haase A, Goldberg AC (2012) Identification of people with heterozygous familial hypercholesterolemia. Curr Opin Lipidol 23: 282-289.
37. Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, et al. (2013) Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J 34: 3478-3490a.
38. Brice P, Burton H, Edwards CW, Humphries SE, Aitman TJ (2013) Familial hypercholesterolaemia: a pressing issue for European health care. Atherosclerosis 231: 223-226.
39. Brown MS, Goldstein JL (1975) Regulation of the activity of the low density lipoprotein receptor in human fibroblasts. Cell 6: 307-316.