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Titolo:
Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome
Autore:
Itoh, T; Kikuchi, K; Odagawa, Y; Takata, S; Yano, K; Okada, S; Haneda, N; Ogawa, S; Nakano, O; Kawahara, Y; Kasai, H; Nakayama, T; Fukutomi, T; Sakurada, H; Shimizu, A; Yazaki, Y; Nagai, R; Nakamura, Y; Tanaka, T;
Indirizzi:
Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab, Tokyo 1088639, Japan Univ Tokyo Tokyo Japan 1088639 Genome, Mol Med Lab, Tokyo 1088639, Japan Gunma Univ, Sch Med, Dept Internal Med 2, Maebashi, Gumma 371, Japan GunmaUniv Maebashi Gumma Japan 371 nal Med 2, Maebashi, Gumma 371, Japan Asahikawa Med Coll, Dept Internal Med 1, Asahikawa, Hokkaido 078, Japan Asahikawa Med Coll Asahikawa Hokkaido Japan 078 kawa, Hokkaido 078, Japan Hokkaido Univ, Sch Med, Dept Pediat, Sapporo, Hokkaido 060, Japan HokkaidoUniv Sapporo Hokkaido Japan 060 at, Sapporo, Hokkaido 060, Japan Kanazawa Univ, Sch Med, Dept Internal Med 1, Kanazawa, Ishikawa 920, JapanKanazawa Univ Kanazawa Ishikawa Japan 920 , Kanazawa, Ishikawa 920, Japan Nagasaki Univ, Sch Med, Dept Internal Med 3, Nagasaki 852, Japan Nagasaki Univ Nagasaki Japan 852 ept Internal Med 3, Nagasaki 852, Japan Osaka Univ, Sch Med, Dept Pediat, Osaka 553, Japan Osaka Univ Osaka Japan 553 Univ, Sch Med, Dept Pediat, Osaka 553, Japan Shimane Med Univ, Dept Pediat, Izumo, Shimane 693, Japan Shimane Med UnivIzumo Shimane Japan 693 ediat, Izumo, Shimane 693, Japan Keio Univ, Sch Med, Dept Internal Med, Tokyo, Japan Keio Univ Tokyo Japan io Univ, Sch Med, Dept Internal Med, Tokyo, Japan Takamatsu Municipal Hosp, Dept Pediat, Takamatsu, Kagawa, Japan Takamatsu Municipal Hosp Takamatsu Kagawa Japan Takamatsu, Kagawa, Japan Kawasaki Med Sch, Dept Med, Div Cardiol, Kurashiki, Okayama, Japan Kawasaki Med Sch Kurashiki Okayama Japan diol, Kurashiki, Okayama, Japan Metropolitan Kiyose Childrens Hosp, Dept Cardiol, Tokyo, Japan Metropolitan Kiyose Childrens Hosp Tokyo Japan pt Cardiol, Tokyo, Japan Nakayama Clin, Dept Internal Med, Utsunomiya, Tochigi, Japan Nakayama Clin Utsunomiya Tochigi Japan l Med, Utsunomiya, Tochigi, Japan Bisai City Hosp, Dept Internal Med, Bisai, Japan Bisai City Hosp Bisai Japan City Hosp, Dept Internal Med, Bisai, Japan Metropolitan Hiroo Hosp, Div Cardiol, Tokyo, Japan Metropolitan Hiroo Hosp Tokyo Japan roo Hosp, Div Cardiol, Tokyo, Japan Yamaguchi Univ, Sch Med, Dept Internal Med 2, Ube, Yamaguchi 755, Japan Yamaguchi Univ Ube Yamaguchi Japan 755 l Med 2, Ube, Yamaguchi 755, Japan Int Med Ctr Japan, Tokyo, Japan Int Med Ctr Japan Tokyo JapanInt Med Ctr Japan, Tokyo, Japan Univ Tokyo, Grad Sch Med, Dept Cardiovasc Med, Tokyo, Japan Univ Tokyo Tokyo Japan Grad Sch Med, Dept Cardiovasc Med, Tokyo, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 46, anno: 2001,
pagine: 38 - 40
SICI:
1434-5161(2001)46:1<38:COGEWR>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
CARDIAC-ARRHYTHMIA; GENOMIC ORGANIZATION; MUTATIONAL ANALYSIS; POTASSIUM CHANNEL; HERG MUTATIONS; KVLQT1; K(V)LQT1; PROTEINS; FORM;
Keywords:
long QT syndrome; genotype/phenotype correlation; beta-blocker; arrhythmia; genetic heterogeneity;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Tanaka, T Univ Tokyo, Inst Med Sci, Ctr Human Genome, Mol Med Lab, 4-6-1 Shirokanedai,Minato Ku, Tokyo 1088639, Japan Univ Tokyo 4-6-1 Shirokanedai,Minato Ku Tokyo Japan 1088639 pan
Citazione:
T. Itoh et al., "Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome", J HUM GENET, 46(1), 2001, pp. 38-40

Abstract

Mutations in any of the five genes KCNQ1, KCNH2, KCNE1, KCNE2, and SCN5A can be responsible for familial long QT syndrome (LQTS), an arrhythmogenic disorder that entails a high risk of sudden death. beta -Adrenergic blockingagents are the first therapeutic choice, and 80% of patients treated with these agents show symptomatic relief; however the remaining 20% do not respond well. We previously performed a nationwide analysis of familial long QTsyndrome (LQTS) in Japan and identified 32 mutations in the KCNQ1 and KCNH2 genes. In the present retrospective study, we found that patients carrying mutations in the KCNQ1 gene responded better to beta -adrenergic blockingagents than these with KCNH2 mutations (12 of 13 vs 1 of 5; P = 0.0077, Fisher's exact test). This is a good example of the power of genetic diagnosis to direct the selection of appropriate therapy for patients with diseasesof heterogeneous genetic etiology.

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Documento generato il 01/12/20 alle ore 08:17:34