Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug Discovery.

ABSTRACT: In the human genome more than 400 genes encode ion channels, which are transmembrane proteins mediating ion fluxes across membranes. Being expressed in all cell types, they are involved in almost all physiological processes, including sense perception, neurotransmission, muscle contraction, secretion, immune response, cell proliferation, and differentiation. Due to the widespread tissue distribution of ion channels and their physiological functions, mutations in genes encoding ion channel subunits, or their interacting proteins, are responsible for inherited ion channelopathies. These diseases can range from common to very rare disorders and their severity can be mild, disabling, or life-threatening. In spite of this, ion channels are the primary target of only about 5% of the marketed dru

SUBMITTER: Imbrici P 

PROVIDER: S-EPMC4861771 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature