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Tytuł oryginału: Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
Autorzy: Tristani-Firouzi Martin, Jensen Judy L., Donaldson Matthew R., Sansone Valeria, Meola Giovanni, Hahn Angelika, Bendahhou Said, Kwieciński Hubert, Fidziańska Anna, Plaster Nikki, Fu Ying-Hui, Ptacek Louis J., Tawil Rabi
Źródło: J. Clin. Invest. 2002: 110 (3) s.381-388, il., tab., bibliogr. 38 poz.
Sygnatura GBL: 310,487

Hasła klasyfikacyjne GBL:
  • pediatria
  • genetyka
  • kardiologia

    Typ dokumentu:
  • praca kliniczna
  • praca opublikowana za granicą
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie
  • noworodki
  • niemowlęta
  • dzieci 2-5 r.ż.
  • dzieci 6-12 r.ż.
  • dzieci 13-18 r.ż.
  • dorośli 19-44 r.ż.

    Streszczenie angielskie: Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalitise. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K+ channel Kir2.1. In this report, we characterized the functional consequences of three novel and seven previously described KCNJ2 mutations using a two-microelectrode voltage-clamp technique and correlated the findings with the clinical phenotype. All mutations resulted in loss of function and dominant-negative suppression of Kir2.1 channel function. In mutation carriers, the frequency of periodick paralysis was 64 p.c. and dysmorphic features 78 p.c. LQT was the primary cardiac manifestation, present in 71 p.c. of KCNJ2 mutation carriers, with ventricular arrhythmias present in 64 p.c. While arrhythmias were common, none of our subjects suffered sudden cardiac death. To gain insight into the mechanismof arrhythmia susceptibility, we simulated the effect of reducdd Kir2.1 using a ventricular myocyte model. A reduction in Kir2.1 prolonged the termkinal phase of the cardiac action potential, and n the setting of reduced extracellular K+, nduced Na+/Ca2+ exchanger-dependent delayed afterdepolarizations and spontaneous arrhythmias. These findings suggest that the substrate for arrhythmia susceptibility in AS is distinct from the other forms of inherited LQT syndrome.

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