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Titolo:
Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser
Autore:
Janunger, T; Anan, I; Holmgren, G; Lovheim, O; Ohlsson, PI; Suhr, OB; Tashima, K;
Indirizzi:
Umea Univ Hosp, Dept Med Biosci Med Genet, S-90185 Umea, Sweden Umea Univ Hosp Umea Sweden S-90185 iosci Med Genet, S-90185 Umea, Sweden Umea Univ, Dept Med Biosci Med Biochem & Biophys, Umea, Sweden Umea Univ Umea Sweden pt Med Biosci Med Biochem & Biophys, Umea, Sweden Ostersund Hosp, Dept Internal Med, Ostersund, Sweden Ostersund Hosp Ostersund Sweden p, Dept Internal Med, Ostersund, Sweden
Titolo Testata:
AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION
fascicolo: 2, volume: 7, anno: 2000,
pagine: 137 - 140
SICI:
1350-6129(200006)7:2<137:HFCBAN>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
LIVER-TRANSPLANTATION; FAMILIAL AMYLOIDOSIS; POLYNEUROPATHY;
Keywords:
amyloidosis; familial amyloidotic polyneuropathy; transthyretin; mutation; cardiac amyloidosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Janunger, T Umea Univ Hosp, Dept Med Biosci Med Genet, S-90185 Umea, Sweden Umea Univ Hosp Umea Sweden S-90185 net, S-90185 Umea, Sweden
Citazione:
T. Janunger et al., "Heart failure caused by a novel amyloidogenic mutation of the transthyretin gene: ATTR Ala45Ser", AMYLOID, 7(2), 2000, pp. 137-140

Abstract

Cardiac failure in transthyretin (TTR) amyloidosis patients has been shownto be caused by different mutations in the TTR gene. In the present case, a 73-year-old man from Northern Sweden was evaluated for heart failure. Amyloid deposits were found in subcutaneous fat and in intestinal biopsies. The presence of a variant form of TTR was detected in the plasma by electrospray ionisation mass spectrometry (ESI-MS). The mutation was located by single-strand conformation polymorphism (SSCP) analysis of the TTR gene where aband shift was seen in exon 2. Direct sequencing of exon 2 revealed a single base-pair substitution (G1724T). This transversion results in an amino acid substitution at codon 45, alanine to serine (ATTRAla45Ser). Mass spectrometry analysis excluded that the variant is a polymorphism, since no similar shift in molecular weight has been present in more than 200 control samples. Congo red and immunostaining of duodenum biopsy specimens confirmed the presence of systemic ATTR amyloidosis, and clinical examination, including echocardiography, found evidence of a restrictive cardiomyopathy. He had 10 years previously been operated for a bilateral carpal tunnel syndrome, but otherwise no symptoms were present that could be attributed to his systemic amyloidosis. No axonal polyneuropathy was noted at nerve conduction studies. This novel mutation is the second amyloidogenic TTR mutation found inthe Swedish population.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 03:50:35