Molecular basis of type III hyperlipoproteinemia in Germany

Human Mutation

Volumn 11, Issue 6, 1998, Pages 417-423

  Feussner, Giso ^a,c   Feussner, Vera ^a   Hoffmann, Michael M ^b   Lohrmann, Jens ^a   Wieland, Heinrich ^b   März, Winfried ^b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Apolipoprotein (apo) E; Atherosclerosis; Familial dysbetalipoproteinemia (FD); Type III hyperlipoproteinemia (HLP)

Indexed keywords

APOLIPOPROTEIN E;

ADULT; AGED; ARTICLE; ATHEROSCLEROSIS; DISEASE TRANSMISSION; FAMILIAL DISEASE; FEMALE; GENOTYPE; GERMANY; HUMAN; HYPERLIPOPROTEINEMIA TYPE 3; LIPOPROTEIN METABOLISM; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL; STOP CODON;

ADULT; AMINO ACID SUBSTITUTION; APOLIPOPROTEIN E2; APOLIPOPROTEINS E; CODON, TERMINATOR; EPIDEMIOLOGY, MOLECULAR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HOMOZYGOTE; HUMANS; HYPERLIPOPROTEINEMIAS; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 0031969628     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5     Document Type: Article

References (31)

1. Civeira F, Pocovi M, Cenarro A, Casao E, Vilella E, Joven J, Gonzáles J, Garcia-Otín AL, Ordovás JM (1996) Apo E variants in patients with type III hyperlipoproteinemia. Atherosclerosis 127:273-282
2. Davignon J, Gregg RE, Sing CF (1988) Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1-21.
3. Dobmeyer J, Lohrmann J, Feussner G (1996) Prevalence and association of atherosclerosis at three different arterial sites in patients with type III hyperlipoproteinemia. Atherosclerosis 119:89-98.
4. Emi M, Wu LL, Robertson MA, Myers RL, Hegele RA, Williams RR, White R, Lalouel J-M (1988) Genotyping and sequence analysis of apo E isoforms. Genomics 3:373-379.
5. 3500 glutamine mutation in patients with type III hyperlipoproteinemia. Clin Genet 42:302-305.
6. Feussner G, Funke H, Weng W, Assmann G, Lackner KJ, Ziegler R (1992) Severe type III hyperlipoproteinemia associated with unusual apolipoprotein E1 phenotype and ε1/"null" genotype. Eur J Clin Invest 22:599-608.
7. 158→ Cys) variant. Clin Chem 41:1043-1045.
8. Feussner G, Albanese M, Mann WA, Valencia A, Schuster H (1996a) Apolipoprotein E2 (Arg → 136 Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia. Eur J Clin Invest 26:13-23.
9. Feussner G, Dobmeyer J, Grone H-J, Lohmer S, Wohlfeil S (1996b) A 10-bp deletion in the apolipoprotein ε gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia. Am J Hum Genet 58:281-291.
10. Hixson JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI. J Lipid Res 31:545-548.
11. Ji Z-S, Fazio S, Westerlund JR, Weisgraber KH, Rall SC Jr (1994) Variable heparan sulfate proteoglycan binding of apolipoprotein E variants may modulate the expression of type III hyperlipoproteinemia. J Biol Chem 269:13421-13428.
12. Lalazar A, Weisgraber KH, Rall SC Jr, Giladi H, Innerarity TL, Levanon AZ, Boyles JK, Amit B, Gorecki M, Mahley RW, Vogel T (1988) Site-specific mutagenesis of human apolipoprotein E. Receptor binding activity of variants with single amino acid substitutions. J Biol Chem 263:3542-3545.
13. 145 → Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia. J Biol Chem 266:10479-10484
14. Luley C, Baumstark MW, Wieland H (1991) Rapid apolipoprotein E phenotyping by immunofixation in agarose. J Lipid Res 32:880-883.
15. Mahley RW, Rall SC Jr (1995) Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. 7th Ed. New York: McGraw-Hill, pp 1953-1980.
16. Mahley RW, Innerarity TL, Rall SC Jr, Weisgraber KH, Taylor JM (1990) Apolipoprotein E: genetic variants provide insights into its structure and function. Curr Opin Lipidol 1:87-95.
17. Harrisburg: A new variant of apolipoprotein E dominantly associated with type III hyperlipoproteinemia. Biochim Biophys Acta 1005:239-244.
18. 146 → Glu). J Clin Invest 96:1100-1107.
19. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
20. Paik YK, Chang DJ, Reardon CA, Davies GE, Mahley RW, Taylor JM (1985) Nucleotide sequence and structure of the human apolipoprotein E gene. Proc Natl Acad Sci USA 82:3445-3449.
21. Rall SC Jr, Mahley RW (1992) The role of apolipoprotein E genetic variants in lipoprotein disorders. J Intern Med 231:653-659.
22. Rall SC Jr, Weisgraber KH, Innerarity TL, Bersot TR Mahley RW (1983) Identification of a new structural variant of human apolipoprotein E, E2 (Lys146 → Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype. J Clin Invest 72:1288-1297.
23. Rall SC Jr, Newhouse YM, Clarke HRG, Weisgraber KH, McCarthy BJ, Mahley RW, Bersot TP (1989) Type III hyperlipoproteinemia associated with apolipoprotein E phenotype E3/ 3: Structure and genetics of an apolipoprotein E3 variant. J Clin Invest 83:1095-1101.
24. 142 → Leu) in type III hyperlipidemia. Atherosclerosis 112:19-28.
25. Sanger F, Nicklen S, Coulson AR (1977). DNA sequencing with chain- terminating inhibitors. Proc Natl Acad Sci USA 74:5463-5367.
26. Utermann G (1987) Apolipoprotein E polymorphism in health and disease. Am Heart J 113:443-440.
27. Walden CC, Huff MW, Leiter LA, Connelly PW, Hegele RA (1994) Detection of a new apolipoprotein-E mutation in type III hyperlipoproteinemia using deoxyribonucleic acid restriction isotyping. J Clin Endocrinol Metab 78:699-704.
28. Wardell MR, Brennan SO, Janus ED, Fraser R, Carrell RW (1987) Apolipoprotein E2-Christchurch (136 Arg → Ser). New variant of apolipoprotein E in a patient with type III hyperlipoproteinemia. J Clin Invest 80:483-490.
29. Wardell MR, Weisgraber KH, Havekes LM, Rall SC Jr (1989) Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121 to 127 J Biol Chem 265:21205-21210.
30. Warnick GR, Mayfield C, Albers JJ, Hazzard WR (1979) Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3. Clin Chem 25:279-284.
31. Weisgraber KH, Rall SC Jr, Innerarity TL, Mahley RW, Kuust T, Ehnholm C (1984) A novel electrophoretic variant of human apolipoprotein E. Identification and characterization of apolipoprotein E1. J Clin Invest 73:1024-1033