FUNCTIONAL TEST OF ION CHANNELS

Ion channels are proteins that control the flux of positive or negative ions through the cell membranes. There exist many kinds of ion channels with different properties, involved in many organic functions: mainly the production and exchange of cellular electric signals (e.g. in motor control or cerebral functions) and the control of the ionic balance of the organism (e.g. in the kidney or gut). “Channelopathies” are genetic diseases due to mutations in genes coding for ion channels. Many tenths of channelopathies are presently known and more and more are being discovered. Considering the variety of functions carried out by ion channels, channelopathies produce a very broad range of disfunctions, e.g. cerebral pathologies such as epilepsy, or muscle pathologies, or malfunctions of the ionic and water balance of the organism, such as cystic fibrosis or Lyddle syndrome. The study of the properties of mutant channels linked to pathologies is crucial to understand the nature of the disease. However, the competences necessary to study these special proteins are utterly from those necessary to identify and isolate the mutant genes from affected individuals. In fact, the most sensitive and rigorous methods for studying ion channels involve recording of cellular electric currents. To proceed in the study of such diseases, it is thus necessary to gather research groups with rather heterogeneous competences and willing to work on similar projects. Usually, and particularly in Italy, the research institutions hosting research groups satisfying these conditions are scanty. We aim at offering italian molecular biologists a specialized service to test mutant ion channels with the methods of cellular physiology. We hope this should speed and facilitate the progress in our research field.