Genetic T-type calcium channelopathies

Calcium channelopathies.

Introduction Calcium (Ca2+) is an essential signalling molecule is known about the VGCC with reference to these diseases and to speculate on the implications for in many biological systems, and normal intracellular other human diseases. calcium levels at ~100 nM are 20 000-fold lower than the 2 mM concentration found extracellularly. Homoeostatic mechanisms are tightly controlled to enable Ca2+...

Understanding cardiac calcium channelopathies.

Timothy syndrome is a rare genetic disorder characterized by QT prolongation (designated LQT8), arrhythmias and sudden death, structural heart disease, cognitive defects with autism, syndactyly (webbed fingers and toes), hypoglycemia, and immune deficiencies.1,2 A single mutation (G406R) in exon 8a of the cardiac L-type calcium channel (CACNA1C, Cav1.2, 1c) was shown to cause Timothy syndrome i...

Genetic Testing for Cardiac Ion Channelopathies

Cardiac channelopathies: genetic and molecular mechanisms.

Channelopathies are diseases caused by dysfunctional ion channels, due to either genetic or acquired pathological factors. Inherited cardiac arrhythmic syndromes are among the most studied human disorders involving ion channels. Since seminal observations made in 1995, thousands of mutations have been found in many of the different genes that code for cardiac ion channel subunits and proteins t...

Computational tools to investigate genetic cardiac channelopathies

The aim of this perspective article is to share with the community of ion channel scientists our thoughts and expectations regarding the increasing role that computational tools will play in the future of our field. The opinions and comments detailed here are the result of a 3-day long international exploratory workshop that took place in October 2013 and that was supported by the Swiss Nationa...