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Titolo:
De novo mutation in the SCN5A gene associated with early onset of sudden infant death
Autore:
Wedekind, H; Smits, JPP; Schulze-Bahr, E; Arnold, R; Veldkamp, MW; Bajanowski, T; Borggrefe, M; Brinkmann, B; Warnecke, I; Funke, H; Bhuiyan, ZA; Wilde, AAM; Breithardt, G; Haverkamp, W;
Indirizzi:
Univ Munster, Dept Cardiol & Angiol, D-48149 Munster, Germany Univ Munster Munster Germany D-48149 & Angiol, D-48149 Munster, Germany Univ Munster, Inst Legal Med, D-48149 Munster, Germany Univ Munster Munster Germany D-48149 Legal Med, D-48149 Munster, Germany Univ Munster, Inst Arteriosclerosis Res, D-4400 Munster, Germany Univ Munster Munster Germany D-4400 lerosis Res, D-4400 Munster, Germany Univ Mannheim, Dept Pediat, D-6800 Mannheim 1, Germany Univ Mannheim Mannheim Germany 1 Dept Pediat, D-6800 Mannheim 1, Germany Expt & Mol Cardiol Grp, Amsterdam, Netherlands Expt & Mol Cardiol Grp Amsterdam Netherlands rp, Amsterdam, Netherlands Univ Amsterdam, Acad Med Ctr, NL-1012 WX Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1012 WX X Amsterdam, Netherlands
Titolo Testata:
CIRCULATION
fascicolo: 10, volume: 104, anno: 2001,
pagine: 1158 - 1164
SICI:
0009-7322(20010904)104:10<1158:DNMITS>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
LONG-QT SYNDROME; CARDIAC SODIUM-CHANNEL; NA+ CHANNEL; MOLECULAR MECHANISMS; MULTIPLE MECHANISMS; LQT-3 MUTATION; ALPHA-SUBUNIT; HUMAN HEART; INTERVAL; CHILDREN;
Keywords:
long-QT syndrome; arrhythmia; death, sudden; sodium; genes;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
36
Recensione:
Indirizzi per estratti:
Indirizzo: Wedekind, H Univ Munster, Dept Cardiol & Angiol, Albert Schweitzer Str 33,D-48149 Munster, Germany Univ Munster Albert Schweitzer Str 33 Munster Germany D-48149
Citazione:
H. Wedekind et al., "De novo mutation in the SCN5A gene associated with early onset of sudden infant death", CIRCULATION, 104(10), 2001, pp. 1158-1164

Abstract

Background-Congenital long QT syndrome (LQTS), a cardiac ion channel disease, is an important cause of sudden cardiac death. Prolongation of the QT interval has recently been associated with sudden infant death syndrome, which is the leading cause of death among infants between 1 week and 1 year ofage. Available data suggest that early onset of congenital LQTS may contribute to premature sudden cardiac death in otherwise healthy infants. Methods and Results-In an infant who died suddenly at the age of 9 weeks, we performed mutation screening in all known LQTS genes. In the surface ECGsoon after birth, a prolonged QTc interval (600 ms(1/2)) and polymorphic ventricular tachyarrhythmias were documented. Mutational analysis identifieda missense mutation (Ala1330Pro) in the cardiac sodium channel gene SCN5A,which was absent in both parents. Subsequent genetic testing confirmed paternity, thus suggesting a de novo origin. Voltage-clamp recordings of recombinant A1330P mutant channel expressed in HEK-293 cells showed a positive shift in voltage dependence of inactivation, a slowing of the time course ofinactivation, and a faster recovery from inactivation. Conclusions-In this study, we report a de novo mutation in the sodium channel gene SCN5A, which is associated with sudden infant death. The altered functional characteristics of the mutant channel was different from previously reported LQTS3 mutants and caused a delay in final repolarization. Even in families without a history of LQTS, de novo mutations in cardiac ion channel genes may lead to sudden cardiac death in very young infants.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 01:21:58