Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

Atherosclerosis

Volumn 180, Issue 2, 2005, Pages 311-318

  Di Leo, Enza ^a   Lancellotti, Sandra ^a   Penacchioni, Junia Y ^a   Cefalù, Angelo B ^b   Averna, Maurizio ^b   Pisciotta, L ^c   Bertolini, Stefano ^c   Calandra, Sebastiano ^a   Gabelli, Carlo ^d   Tarugi, Patrizia ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

Abetalipoproteinemia; Apo B gene; Apo E genotype; Gene mutations; Hypobetalipoproteinemia; MTP gene

Indexed keywords

AMINO ACID; APOLIPOPROTEIN B; APOLIPOPROTEIN E2; ISOPROTEIN; LOW DENSITY LIPOPROTEIN; MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN;

ABETALIPOPROTEINEMIA; ADULT; ALLELE; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; EXON; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPOBETALIPOPROTEINEMIA; INHERITANCE; INTRON; LIPOPROTEIN BLOOD LEVEL; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DEPLETION;

ABETALIPOPROTEINEMIA; ADULT; CARRIER PROTEINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; HYPOBETALIPOPROTEINEMIAS; MALE; PEDIGREE; PHENOTYPE;

EID: 23044463691     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosis.2004.12.004     Document Type: Article

References (21)

1. J.P. Kane, and R.J. Havel Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw Hill New York, NY 2717 2752
2. G. Schonfeld Familial hypobetalipoproteinemia: a review J Lipid Res 44 2003 878 883
3. J.R. Burnett, J. Shan, and B.A. Miskie A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia J Biol Chem 278 2003 13442 13452
4. M.M. Hussain, J. Shi, and P. Dreizen Microsomal triglyceride transfer protein and its role in apo B-lipoprotein assembly J Lipid Res 44 2003 22 32
5. P. Sharp, L. Blindermann, and K.A. Combs Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia Nature 365 1993 65 69
6. C.C. Shoulders, D.J. Brett, and J.D. Bayliss Abetalipoproteinemia is caused by defects of the gene encoding the 97kDa subunit of a microsomal triglyceride transfer protein Hum Mol Genet 2 1993 2109 2116
7. Narcisi TME, C.C. Shoulders, and S.A. Chester Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia Am J Hum Genet 57 1995 1298 1310
8. E.F. Rehberg, M.E. Samson-Bouma, and B. Kienzle A novel abetalipoproteinemia genotype J Biol Chem 271 1996 29945 29952
9. B. Ricci, D. Sharp, and E. O'Rourke A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide isomerase and causes abetalipoproteinemia J Biol Chem 270 1995 14281 14285
10. X.P. Yang, A. Inazu, and K. Yagi Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene Arterioscler Thromb Vasc Biol 19 1999 1950 1955
11. J. Wang, and R.A. Hegele Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia Hum Mutat 15 2000 294 295
12. K. Ohashi, S. Ishibashi, and J. Osuga Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia J Lipid Res 41 2000 1199 1204
13. M-T. Berthier, P. Couture, and A. Houde The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians Mol Genet Metab 81 2004 140 143
14. P. Tarugi, A. Lonardo, and C. Gabelli Phenotypic expression of familial hypobetalipoproteinemia in three kindreds with mutations of apolipoprotein B gene J Lipid Res 42 2001 1552 1561
15. H. Ledmyr, F. Karpe, and B. Lundahl Variants of the microsomal triglyceride transfer protein gene are associated with plasma cholesterol levels and body mass index J Lipid Res 43 2002 51 58
16. B. Jones, E.L. Jones, and S.A. Bonney Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders Nat Genet 34 2003 29 31
17. P. Bradbury, C.J. Mann, and S. Kochl A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase J Biol Chem 271 1999 3159 3164
18. K. Al-Shali, J. Wang, and F. Rosen Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia Clin Genet 63 2003 135 138
19. R.W. Mahely, and S.C. Rall Type III hyperlipoproteinemia (dysbetalipoproteinemia): the role of apolipoprotein E in normal and abnormal lipoprotein metabolism C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular bases of inherited disease 8th ed. 2001 McGraw Hill New York, NY 2835 2862
20. G. Utermann Apolipoprotein E polymorphism in health and disease Am Heart J 113 1987 433 440
21. J. Dallongeville, S. Lussier-Cacan, and J. Davignon Modulation of plasma triglyceride levels by apo E phenotype-a meta-analysis J. Lipid Res 33 1992 447 454