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Titolo:
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease
Autore:
Bertolini, S; Pisciotta, L; Seri, M; Cusano, R; Cantafora, A; Calabresi, L; Franceschini, G; Ravazzolo, R; Calandra, S;
Indirizzi:
Univ Modena, Dept Biomed Sci, I-4100 Modena, Italy Univ Modena Modena Italy I-4100 a, Dept Biomed Sci, I-4100 Modena, Italy Univ Genoa, Dept Internal Med, I-16132 Genoa, Italy Univ Genoa Genoa Italy I-16132 , Dept Internal Med, I-16132 Genoa, Italy Inst G Gaslini, Mol Genet Lab, I-16147 Genoa, Italy Inst G Gaslini GenoaItaly I-16147 , Mol Genet Lab, I-16147 Genoa, Italy Natl Inst Hlth, I-00161 Rome, Italy Natl Inst Hlth Rome Italy I-00161Natl Inst Hlth, I-00161 Rome, Italy Univ Milan, Inst Pharmacol Sci, I-20133 Milan, Italy Univ Milan Milan Italy I-20133 Inst Pharmacol Sci, I-20133 Milan, Italy
Titolo Testata:
ATHEROSCLEROSIS
fascicolo: 3, volume: 154, anno: 2001,
pagine: 599 - 605
SICI:
0021-9150(20010215)154:3<599:APMIAG>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
BINDING CASSETTE TRANSPORTER-1; DENSITY-LIPOPROTEIN DEFICIENCY; APOLIPOPROTEIN-A-I; CHOLESTEROL; FIBROBLASTS; EFFLUX; PLASMA; PHOSPHOLIPIDS; REMOVAL;
Keywords:
Tangier disease; ABC1 gene; low HDL cholesterol; coronary heart disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Calandra, S Univ Modena, Dept Biomed Sci, Via Campi 287, I-4100 Modena, Italy Univ Modena Via Campi 287 Modena Italy I-4100 0 Modena, Italy
Citazione:
S. Bertolini et al., "A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease", ATHEROSCLER, 154(3), 2001, pp. 599-605

Abstract

The proband is a 50 year-old woman born from a consanguineous marriage. She has been suffering from angina pectoris since the age of 38 and underwentcoronary bypass surgery for three-vessel disease at 48. The presence of low plasma levels of total cholesterol and high density lipoprotein (HDL) cholesterol (2.4 and 0.1 mmol/l) and apo AI (< 15 mg/dl) associated with corneal lesions and a mild splenomegaly suggested the diagnosis of Tangier disease. However, none of the other features of Tangier disease, including hepatomegaly anemia and peripheral neuropathy, were present. The analysis of thedinucleotide microsatellites located in chromosome 9q31 region demonstrated that the proband was homozygous for the alleles of D9S53, D9S1784 and D9S1832. The mother and son of the proband, both with low levels of HDL. cholesterol, shared one of the proband's haplotypes, whereas neither of these haplotypes was present in the normolipidemic proband's sister. The sequence of ATP-binding cassette transporter 1 (ABC1-1) cDNA obtained by reverse transcription-PCR (RT-PCR) of total RNA isolated from cultured fibroblasts showed that the proband was homozygous for a C > T transition in tron 13, whichcaused a tryptophane for arginine substitution (R527W). This mutation was confirmed by direct sequencing of exon 13 amplified from genomic DNA. It can be easily screened, as the nucleotide change introduces a restriction sits for the enzyme All III. R527W substitution occurs in a highly conserved region of the NH2 cytoplasmic domain of ABC1 protein. R527W co-segregates with the low HDL phenotype in the family and was not found in 200 chromosomesfrom normolipidemic individuals. (C) 2001 Elsevier Science Ireland Ltd. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/07/20 alle ore 09:38:06