Familial hypercholesterolemia 25 years after. I. LDL receptor defects;L'HYPERCHOLESTEROLEMIE FAMILIALE 25 ANS APRES I. DEFAUTS DU RECEPTEUR DES LDL

Medecine/Sciences

Volumn 13, Issue 12, 1997, Pages 1399-1408

  Varret, Mathilde ^a   Rabès, Jean Pierre ^b   Boileau, Catherine ^b  

^a INSERM   (France)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B; CELL SURFACE RECEPTOR; CHOLESTEROL; DINUCLEOTIDE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

AMINO ACID SEQUENCE; ANIMAL EXPERIMENT; ANIMAL MODEL; AORTA ATHEROSCLEROSIS; AUTOSOMAL DOMINANT DISORDER; BINDING SITE; CARBOXY TERMINAL SEQUENCE; CHOLESTEROL BLOOD LEVEL; COMPUTER ANALYSIS; CONTROLLED STUDY; DATA BASE; DNA POLYMORPHISM; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENE THERAPY; GENETIC HETEROGENEITY; HUMAN; LIGAND BINDING; LIPID DIET; LIPOPROTEIN BLOOD LEVEL; MISSENSE MUTATION; MOLECULAR CLONING; NONHUMAN; NONSENSE MUTATION; POINT MUTATION; REVIEW; RHESUS MONKEY; TRANSGENE; TRANSGENIC MOUSE; XANTHOMA;

EID: 0030659002     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.4267/10608/571     Document Type: Review

References (40)

1. Goldstein J, Brown M. Familial hypercholesterolemia. In: Scriver CR, Beaudet AL, Sly WS, eds. The metabolic basis of inherited diseaes, 6th ed. New York: McGraw-Hill, 1989: 1215-50.
2. Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1992; 1: 445-66.
3. Benlian P, Récepteur LDL, locus de l'hypercholestérolémie familiale, et modéles animaux. Génétique et dyslipidémies. Paris: Éditions Inserm, 1996: 37-55 et 172-4.
4. Benlian P, Loux N. Hétérogénéité des mutations du récepteur LDL dans l'hypercholestérolémie familiale. Med Sci 1991; 7: 1052-60.
5. Hobbs HH, Russel DW, Brown MS, Goldstein JL. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Annu Rev Genet 1990; 24: 133-70.
6. Bos CR, Shank SL, Snider MD. Role of clathrin-coated vesicles in glycoprotein transport from the cell surface to the Golgi complex. J Biol Chem 1995; 270: 665-71.
7. Daly NL, Scanlon MJ, Djordjevic JT, Kroon PA, Smith R. Three-dimensional structure of a cystein-rich repeat from the low-density lipoprotein receptor. Proc Natl Acad Sci USA 1995; 92: 6334-8.
8. Peeters AV, Van Gaal LF, Kotze MJ. A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene. Clin Genet 1995; 47: 101-2.
9. Jensen HK, Jensen LG, Hansen PS, Kjeldsen M, Gerdes LU, Bolund L, Faergeman O, Gregersen N. A rare silent C to T mutation in exon 7 of the low density lipoprotein receptor (LDLR) gene. Clin Genet 1994; 45: 54-5.
10. Nissen H, Bo Hansen AB, Jensen HK. A frequent Hhal polyporphism in intron 9 of the low density lipoprotein receptor gene detected by the denaturating gradient gel electrophoresis. Clin Genet 1995; 48: 221-2.
11. Yamakawa-Kobayashi K, Kobayashi T, Obara T, Hamaguchi H. Four new nucleotides sequence polymorphisms in the LDL receptor gene detected by SSCP analysis. Hum Genet 1993; 92: 76-8.
12. Varret M, Rabès JP, Collod-Béroud G, Junien C, Boileau C, Béroud C. Software and database for the analysis of mutations in the human LDL receptor gene. Nucleic Acids Res 1997; 25: 172-80.
13. Sun XM, Neuwirth C, Wade DP, Knight BL, Soutar AK. A mutation (T-45C) in the promoter region of the low density lipoprotein (LDL) receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolemia (FH). Hum Mol Genet 1995; 4: 2125-9.
14. Jensen LG, Jensen HK, Nissen H, Kristiansen K, Fraergeman O, Bolund L, Gregersen N. An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. Hum Mutat 1996; 7: 82-4.
15. Bertolini S, Garuti R, Lelli W, Rolled M, Tiozzo R, Ghisellini M, Simone ML, Masturzo P, Elicio N, Stefanutti C, Coviello D, Carabbio C, Orecchini G, Calandra S. Four novel partial deletions of LDLR-receptor gene in Italian patients with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 1995; 15: 81-8.
16. Garuti R, Lelli N, Barozzini M, Tiozzo R, Ghisellini M, Simone ML, Volti SL, Garozzo R, Mollica F, Vergoni W, Bertolini S, Calandra S. Two novel partial deletions of the LDL-receptor gene in italian patients with familial hypercholesterolemia (FH-Siracusa and FH-Reggio Emilia). Atherosclerosis 1996; 121: 105-17.
17. Mandelshtam MJ, Lipovetskyi BM, Schwartzman AL, Gailskhoki VS. A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from St Petersburg. Hum Mutat 1993; 2: 256-60.
18. Horinek A, Slezka V, Sobra J, Ceska R. DNA analysis in heterozygotes in familial hypercholesterolemia. Cas Lek Cesk 1995; 134: 234-9.
19. Jensen HK, Jensen LG, Hasen PS, Faergman O, Gergersen N. High sensitivity of single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing. Clin Chem 1996; 42: 1140-6.
20. Sun X, Patel D, Bhatnagar D, Knight B, Soutar A. Characterisation of a splice-site mutation in the gene for the LDL receptor associated withan unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol 1995; 15: 219-27.
21. Lombardi P, Sijbrands EJG, van de Giessen K, Smelt AHM, Kastelein JJP, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familiar hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995; 36: 860-7.
22. Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. Two point mutations (313 + G-/A and 313 + G-/T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associted with familial hypercholesterolemia. Hum Mutat 1996; 7: 269-71.
23. Leren TP, Solsberg K, Rodningen OK, Tonstad S, Ose L. Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 1994; 111: 175-82.
24. Webb JC, Sun XM, Mccarthy SN, Neuwirth C, Thompson GR, Knigh BL, Soutar AK. Characterization of mutations in the low density lipoprotein (LDL) receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutation in FH patients in the United Kingdom. J Lipid Res 1996; 37: 368-81.
25. Ekstrom U, Abrahamson M, Sveger T, Lombardi P, Nilsson-Ehle P. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hyperchlesterolemia. Hum Genet 1995; 96: 147-50.
26. Leren TP, Solberg K, Rodningen OK, Tonstad S, Ose L. Two novel mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia. Hum Genet 1995; 96: 241-2.
27. Lelli N, Garuti R, Ghisellini M, Tiozzo R, Rolleri M, Aimale V, Ginocchio E, Naselli A, Bertolini S, Calandra S. Occurrence of multiple aberrantly spliced mRNAs of the LDL-receptor gene upon a donnor splice site mutation that causes familial hypercholesterolemia (FH Benevento). J Lipid Res 1995; 36: 1315-24.
28. Smith JR, Osborne TF, Goldstein JL, Brown MS. Identification of nucleotides responsible for enhancer activity of sterol regulatory element in low density lipoprotein receptor gene. J Biol Chem 1990; 265: 2306-10.
29. Yieh L, Sanchez HB, Osborne TF. Domains of transcription factor Sp1 required for synergistic activation with sterol regulatory element binding protein 1 of low density lipoprotein receptor promoter. Proc Natl Acad Sci USA 1995; 92: 6102-6.
30. Cooper DN, Krawczak M. The mutational spectrum of single base-pair substitutions causing human genetic diseases: patterns and predictions. Hum Genet 1990; 85: 55-74.
31. Spady DK, Dietschy JM. Interaction of dietary cholesterol and triglycerides in the regulation of hepatic low density lipoprotein transport in the hamster. J Clin Invest 1988; 81: 300-9.
32. Yokode M, Hammer RE, Ishibashi S, Brown MS, Goldstein JL. Diet-induced hypercholesterolemia in mice: prevention by overproduction of LDL receptor. Science 1990; 250: 1273-5.
33. Ishibashi S, Goldstein JL, Brown MS, Herz J, Burns D. Massive xanthomatosis and atheroslerosis in cholesterol-fed low density lipoprotein receptor negative mice. J Clin Invest 1994; 93: 1885-93.
34. Kroon AA. LDL-apheresis atherosclerosis regression study (LAARS) - Effect of aggressive versus conventional lipid lowering treatment on coronary atherosclerosis. Circulation 1996; 93: 1826-35.
35. Gunsalus JR, Brady DA, Coutler SM, Gray BM, Edge ASB. Reduction of serum cholesterol in Watanabe rabbits by xenogenic hepatocellular transplantation. Nature Med 1997; 3: 48-53.
36. Grossman M, Rader DJ, Muller DWM, Kolansky DM, Kozarsky K, Clarck III BJ, Stein EA, Lupien PJ, Brewer HB, Raper SE, Wilson JM. A pilot study of ex vivo gene therapy for homozygous familial hypercholesterolemia. Nature Med 1995; 1: 1148-54.
37. Valère T. Thérapie génique: le point sur les essais cliniques. Med Sci 1996; 12: 73-83.
38. Li J, Fang B, Eisenmith RC, Chen Li XH, Nasonkin I, Lin-Lee YC, Mims MP, Hughes A, Montgomery CD, Roberts JD, Parker TS. In vivo gene therapy for hyperlipidemia: phenotypic correction in Watanabe rabbits by hepatic delivery of the rabbit LDL receptor gene. J Clin Invest 1995; 95 : 768-73.
39. Ishibashi S, Brown MS, Goldstein JL, Gerard RD, Hammer RE, Joachim H. Hypercholesterolemia in low density lipoprotein receptor knock-out mice and its reversal by adenovirus-mediated gene delivery. J Clin Invest 1993; 92: 883-93.
40. Kozarsky KF, Jooss K, Donahee M, Strauss III JF, Wilson JM. Effective treatement of familial hypercholesterolemia in the mouse model using adenovirus-mediated transfer of the VLDL receptor gene. Nature Genet 1996; 13: 54-62.