Peroz David, Rodriguez Nicolas, Choveau Frank, Baró Isabelle, Mérot Jean, Loussouarn Gildas
INSERM, U533, Nantes, F-44000, France.
J Physiol. 2008 Apr 1;586(7):1785-9. doi: 10.1113/jphysiol.2007.148254. Epub 2008 Jan 3.
KCNQ1 is the pore-forming subunit of a channel complex whose expression and function have been rather well characterized in the heart. Almost 300 mutations of KCNQ1 have been identified in patients and a vast majority of the described mutations are linked to the long QT syndrome. Only a few mutations are linked to other pathologies such as atrial fibrillation and the short QT syndrome. However, a considerable amount of work remains to be done to get a clear picture of the molecular mechanisms responsible for the pathogenesis related to each mutation. The present review gives three examples of recent studies towards this goal and illustrates the diversity of the molecular mechanisms involved.
KCNQ1是一种通道复合物的孔形成亚基，其在心脏中的表达和功能已得到相当充分的表征。在患者中已鉴定出近300种KCNQ1突变，并且绝大多数所描述的突变与长QT综合征有关。只有少数突变与其他病理状况相关，如心房颤动和短QT综合征。然而，要清楚了解与每种突变相关的发病机制的分子机制，仍有大量工作要做。本综述给出了近期针对这一目标的三项研究实例，并说明了其中涉及的分子机制的多样性。
