Unraveling monogenic channelopathies and their implications for complex polygenic disease.

ABSTRACT: Ion channels are a large family of >400 related proteins representing >1% of our genetic endowment; however, ion-channel diseases reflect a relatively new category of inborn error. They were first recognized in 1989, with the discovery of cystic fibrosis transmembrane conductance regulator, and rapidly advanced as positional and functional studies converged in the dissection of components of the action potential of excitable tissues. Although it remains true that diseases of excitable tissue still most clearly illustrate this family of disease, ion-channel disorders now cover the gamut of medical disciplines, causing significant pathology in virtually every organ system, producing a surprising range of often unanticipated symptoms, and providing valuable targets for pharmacological interve

SUBMITTER: Gargus JJ 

PROVIDER: S-EPMC1180344 | biostudies-literature | 2003 Apr

REPOSITORIES: biostudies-literature