Posted by: Johnson Francis on: 07 Mar, 2010
The latest introduction to the congenital long QT syndrome genes is the LQTS 11 (LQT11) gene AKAP9. A-kinase anchor protein 9 (Yotiao) in humans is encoded by the AKAP9 gene. Normally cardiac action potential duration shortens during activation of the sympathetic nervous system. This regulation of the cardiac action potential duration mediated by the beta [...]
Posted by: Johnson Francis on: 20 Sep, 2009
The gene which is affected in Andersen Syndrome (LQT7) is: a. KCNH2 b. KCNQ1 c. SCN5A d. KCNJ2 Answer: d In Andersen syndrome, KCNJ2 which codes for Ik1 potassium channel (Kir2.1) is affected by a loss of function mutation. This results in a reduced outward potassium current. Andersen syndrome is characterised by long QT, periodic [...]
Posted by: Johnson Francis on: 26 Jan, 2009
Congenital short QT syndrome is new inherited clinical syndrome which was described by Gussak et al in 2000. (Cardiology. 2000;94:99-102). A gene mutation causing short QT syndrome was first demonstrated by Brugada et al in January 2004. This mutation in HERG (KCNH2) gene was later called as SQT1 and was due to gain in function [...]
