Cardiac channelopathies: it's in the genes

被引:129
作者
Ackerman, MJ
机构
[1] Mayo Clin & Mayo Fdn, Mayo Clin Coll Med, Dept Med, Long QT Syndrome Clin & Sudden Death Genom Lab, Rochester, MN 55905 USA
[2] Mayo Clin & Mayo Fdn, Mayo Clin Coll Med, Dept Pediat, Long QT Syndrome Clin & Sudden Death Genom Lab, Rochester, MN 55905 USA
[3] Mayo Clin & Mayo Fdn, Mayo Clin Coll Med, Dept Mol Pharmacol, Long QT Syndrome Clin & Sudden Death Genom Lab, Rochester, MN 55905 USA
关键词
D O I
10.1038/nm0504-463
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
In 1995, Mark Keating and colleagues identified two genes responsible for congenital long QT syndrome, a cause of sudden cardiac death. Perturbations in the ion channels that orchestrate the beating heart were central to the disorder. This revelation provided a molecular model for the study of ventricular arrhythmias and enabled further dissection of the genetic defects underlying subtleties in the cardiac phenotype. Soon, these discoveries will be further translated to clinical medicine, with the expected release of one of the first comprehensive clinical genetic tests in cardiology.
引用
收藏
页码:463 / 464
页数:2
相关论文
共 25 条
  • [1] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia
    Abbott, GW
    Sesti, F
    Splawski, I
    Buck, ME
    Lehmann, WH
    Timothy, KW
    Keating, MT
    Goldstein, SAN
    [J]. CELL, 1999, 97 (02) : 175 - 187
  • [2] Ackerman MJ, 2002, MAYO CLIN PROC, V77, P413
  • [3] Mechanisms of disease - Ion channels - Basic science and clinical disease
    Ackerman, MJ
    Clapham, DE
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1997, 336 (22) : 1575 - 1586
  • [4] Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome
    Ackerman, MJ
    Siu, BL
    Sturner, WQ
    Tester, DJ
    Valdivia, CR
    Makielski, JC
    Towbin, JA
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2001, 286 (18): : 2264 - 2269
  • [5] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    Benson, DW
    Wang, DW
    Dyment, M
    Knilans, TK
    Fish, FA
    Strieper, MJ
    Rhodes, TH
    George, AL
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 2003, 112 (07) : 1019 - 1028
  • [6] Sudden death associated with short-QT syndrome linked to mutations in HERG
    Brugada, R
    Hong, K
    Dumaine, R
    Cordeiro, J
    Gaita, F
    Borggrefe, M
    Menendez, TM
    Brugada, J
    Pollevick, GD
    Wolpert, C
    Burashnikov, E
    Matsuo, K
    Wu, YS
    Guerchicoff, A
    Bianchi, F
    Giustetto, C
    Schimpf, R
    Brugada, P
    Antzelevitch, C
    [J]. CIRCULATION, 2004, 109 (01) : 30 - 35
  • [7] Genetic basis and molecular mechanism for idiopathic: ventricular fibrillation
    Chen, QY
    Kirsch, GE
    Zhang, DM
    Brugada, R
    Brugada, J
    Brugada, P
    Potenza, D
    Moya, A
    Borggrefe, M
    Breithardt, G
    Ortiz-Lopez, R
    Wang, Z
    Antzelevitch, C
    O'Brien, RE
    Schulze-Bahr, E
    Keating, MT
    Towbin, JA
    Wang, Q
    [J]. NATURE, 1998, 392 (6673) : 293 - 296
  • [8] KCNQ1 gain-of-function mutation in familial atrial fibrillation
    Chen, YH
    Xu, SJ
    Bendahhou, S
    Wang, XL
    Wang, Y
    Xu, WY
    Jin, HW
    Sun, H
    Su, XY
    Zhuang, QN
    Yang, YQ
    Li, YB
    Liu, Y
    Xu, HJ
    Li, XF
    Ma, N
    Mou, CP
    Chen, Z
    Barhanin, J
    Huang, W
    [J]. SCIENCE, 2003, 299 (5604) : 251 - 254
  • [9] A MOLECULAR-BASIS FOR CARDIAC-ARRHYTHMIA - HERG MUTATIONS CAUSE LONG QT SYNDROME
    CURRAN, ME
    SPLAWSKI, I
    TIMOTHY, KW
    VINCENT, GM
    GREEN, ED
    KEATING, MT
    [J]. CELL, 1995, 80 (05) : 795 - 803
  • [10] LINKAGE OF A CARDIAC-ARRHYTHMIA, THE LONG QT SYNDROME, AND THE HARVEY RAS-1 GENE
    KEATING, M
    ATKINSON, D
    DUNN, C
    TIMOTHY, K
    VINCENT, GM
    LEPPERT, M
    [J]. SCIENCE, 1991, 252 (5006) : 704 - 706