Molecular description of familial defective APOB-100 in Malaysia

Biochemical Genetics

Volumn 51, Issue 9-10, 2013, Pages 811-823

  Al Khateeb, Alyaa R ^c   Sapawi Mohd, Mohd ^a   Yusof, Zukarnai ^b   Zilfalil, Bin Alwi ^c  

^a Hospital Sultanah Nur Zahirah   (Malaysia)

^b SCHOOL OF MEDICAL SCIENCES   (Malaysia)

^c UNIVERSITI TEKNOLOGI MARA   (Malaysia)

Author keywords

APOB 100 gene; DHPLC; Familial defective APOB 100; Mutation

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN RECEPTOR;

ADULT; AMPLICON; APOB 100 GENE; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR GENE; MAJOR CLINICAL STUDY; MALAYSIA; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADULT; APOLIPOPROTEIN B-100; CASE-CONTROL STUDIES; CHROMATOGRAPHY, LIQUID; FEMALE; GENETIC VARIATION; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MALAYSIA; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, LDL; SEQUENCE ANALYSIS, DNA;

EID: 84884675445     PISSN: 00062928     EISSN: 15734927     Source Type: Journal    
DOI: 10.1007/s10528-013-9609-6     Document Type: Article

References (33)

1. Al-Khateeb A, Zahri M, Mohamed M, Sasongko T, Ibrahim S, Yusof Z, Zilfalil B (2011) Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia. BMC Med Genet 12:40
2. Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R (2006) Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and familial defective apolipoprotein B100 (FDB). Malays J Pathol 28:7-15
3. Bednarska-Makaruk M, Bisko M, Pulawska MF, Hoffman-Zacharska D, Rodo M, Roszczynko M, Solik-Tomassi A, Broda G, Polakowska M, Pytlak A, Wehr H (2001) Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland: identification of a new mutation Thr3492Ile in the apolipoprotein B gene. Eur J Hum Genet 9:836-842
4. Benlian P, de Gennes JL, Dairou F, Hermelin B, Ginon I, Villain E, Lagarde JP, Federspiel MC, Bertrand V, Bernard C, Bereziat G (1996) Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. Hum Mutat 7:340-345
5. Boren J, Lee I, Zhu W, Arnold K, Taylor S, Innerarity TL (1998) Identification of the low-density lipoprotein receptor-binding site in apolipoprotein B100 and the modulation of its binding activity by the carboxyl terminus in familial defective apo-B100. J Clin Invest 101:1084-1093
6. Boren J, Ekstrom U, Agren B, Nilsson-Ehle P, Innerarity TL (2001) The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 276:9214-9218
7. Chiou KR, Charng MJ (2012) Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. Gene 498:100-106
8. Choong ML, Koay ES, Khoo KL, Khaw MC, Sethi SK (1997) Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500 → tryptophan mutation associated with a unique haplotype. Clin Chem 43:916-923
9. Defesche JC, Pricker KL, Hayden MR, van der Ende BE, Kastelein JJ (1993) Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia. Arch Intern Med 153:2349-2356
10. Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R (2008) Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Transl Res 151:162-167
11. Fouchier SW, Kastelein JJ, Defesche JC (2005) Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 26:550-556
12. Gaffney D, Reid JM, Cameron IM, Vass K, Caslake MJ, Shepherd J, Packard CJ (1995) Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 15:1025-1029
13. Hansen PS (1998) Familial defective apolipoprotein B-100. Dan Med Bull 45:370-382
14. Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM (1987) Familial defective apolipoprotein B-100: low-density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci USA 84:6919-6923
15. Innerarity TL, Mahley RW, Weisgraber KH, Bersot TP, Krauss RM, Vega GL, Grundy SM, Friedl W, Davignon J, McCarthy BJ (1990) Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31:1337-1349
16. Khoo KL, van Acker P, Defesche JC, Tan H, van de Kerkhof L, Heijnen-van Eijk SJ, Kastelein JJ, Deslypere JP (2000) Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet 58:98-105
17. Liyanage KE, Hooper AJ, Defesche JC, Burnett JR, van Bockxmeer FM (2008) High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations. Ann Clin Biochem 45:170-176
18. Miserez AR, Keller U (1995) Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 15:1719-1729
19. Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocovi M (2004) Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR. Hum Mutat 24:187
20. Myant NB (1993) Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. Atherosclerosis 104:1-18
21. Pietzsch J, Wiedemann B, Julius U, Nitzsche S, Gehrisch S, Bergmann S, Leonhardt W, Jaross W, Hanefeld M (1996) Increased clearance of low-density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach. J Lipid Res 37:2074-2087
22. Pullinger CR, Hennessy LK, Chatterton JE, Liu W, Love JA, Mendel CM, Frost PH, Malloy MJ, Schumaker VN, Kane JP (1995) Familial ligand-defective apolipoprotein B: identification of a new mutation that decreases LDL receptor binding affinity. J Clin Invest 95:1225-1234
23. Rader DJ, Cohen J, Hobbs HH (2003) Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest 111:1795-1803
24. Rauh G, Schuster H, Fischer J, Keller C, Wolfram G, Zollner N (1991) Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100. Klin Wochenschr 69:320-324
25. Schaefer JR, Scharnagl H, Baumstark MW, Schwee H, Zech LA, Seyberth H, Winkler K, Steinmetz A, Marz W (1997) Homozygous familial defective apolipoprotein B-100: enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. Arterioscler Thromb Vasc Biol 17:348-353
26. Schaefer JR, Winkler K, Schweer H, Hoffmann MM, Soufi M, Scharnag IH, Maisch B, Wieland H, Steinmetz A, Marz W (2000) Increased production of HDL ApoA-I in homozygous familial defective ApoB-100. Arterioscler Thromb Vasc Biol 20:1796-1799
27. Scientific Steering Committee (1991) Simon Broome Register Group: risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ 303:893-896
28. Soufi M, Sattler AM, Maerz W, Starke A, Herzum M, Maisch B, Schaefer JR (2004) A new but frequent mutation of apoB-100-apoB His3543Tyr. Atherosclerosis 174:11-16
29. Tai ES, Koay ES, Chan E, Seng TJ, Loh LM, Sethi SK, Tan CE (2001) Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia. Clin Chem 47:438-443
30. Tybjaerg-Hansen A, Humphries SE (1992) Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. Atherosclerosis 96:91-107
31. Wenham PR, Henderson BG, Penney MD, Ashby JP, Rae PW, Walker SW (1997) Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK. Atherosclerosis 129:185-192
32. Win Mar Kyi MNI, Rashid Faridah Abdul, Meor Jama'ayah, Mansur Oa MA (2000) Absence of APO B R3500Q mutation among Kelantanase Malays with hyperlipidemia. Malaysian J Med Sci 7:10-15
33. Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT (2007) LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. J Formos Med Assoc 106:799-807