Structure Function and Pharmacology of Ion Channels


The team leaded by Dr. José M. Fernandez is contributing to the functional characterization of novel genetic, molecular and cellular mechanisms underlying the pathogenesis of neurological disorders, with focus on hemiplegic migraine and hereditary forms of ataxia. In this sense, we have identified new genetic alterations in the CACNA1A gene (coding for the pore forming alpha subunit of the high-voltage activated CaV2.1 (P/Q) calcium channel) in a clinical background of familiar and sporadic hemiplegic migraine (FHM/SHM), and/or different forms of ataxia including episodic ataxia type 2 and congenital ataxia. They affect not just biophysical features of CaV2.1 channels, but also their modulation by regulatory proteins (G proteins and SNARE proteins of the vesicle docking/fusion machinery). In a international collaboration with the group led by Professor Simon E. Ward and Dr. Paul J. Beswick (Translational Drug Discovery Group, School of Life Science, University of Sussex, Brighton, United Kingdom), we are now developing CaV2.1 selective tool molecules capable of reversing the functional consequences of CACNA1A human mutations linked to FHM/SHM, and exploring the potential of this mechanism to produce a treatment for these conditions and migraine in general.

Researchers Researchers

Laboratory of Molecular Physiology

Cell and Molecular Biology Program

Department of Medicine and Life Sciences

Edifici PRBB (campus del Mar)
Doctor Aiguader, 88
08003 Barcelona

 (+34) 93 316 08 54

[email protected]