A recently published study has identified a mutation that relieves the seriousness of neurological symptoms with aura associated with migraine, one of the most common headaches that lead to the highest degree of incapacity, and affects up to 8% of men and up to 20% of women in industrialised countries.

The study was directed by Jose Manuel Fernandez Fernandez, a researcher at the Molecular Physiology and Channelopaties Group in the Department of Experimental and health Sciences at UPF, in collaboration with researchers at the University of Barcelona and the Vall d’Hebron University Hospital, and has just been published in the online edition of the journal Proceedings of the National Academy of Sciences (PNAS).

The team of researchers have identified the mutation in a family in which members of three generations suffered from migraine with various kinds of Aura: visual, visual and sensory and familial hemiplegic. Although they did not find the specific genetic cause of the complaint, the researchers observed that carriers of the mutation presented an attenuated phenotype, characterized by the non-manifestation of the sensory/motor field of the aura associated with the condition.

Action Mechanism in the carriers of the mutation

In this study, Serra and her collaborators have discovered, by using electrophysiologic and molecular  techniques that the mutation identified in CACNA1A protein –which forms the type P/Q calcium channel- dicreases the liberating activity of neurotransmissors ( exocitosis) underlying in a calcium entry.

This process is a system of chemical cell signaling current in the transmission of information between bordering neurones and, as also seen, counts on the participation of SNARE proteins able to join directly the P/Q Channel, an interaction that, precisely altered in the carriers of the mutation.
This minor secreting activity of the P/Q channel may contribute to a reduction in the liberation of the glutamate neurotransmissor in the cortex and, consequently, may decrease the cerebral excitability, attenuating the migraine profile observed in patients carrying this mutation.

Reference Work:

Selma A. Serra, Ester Cuenca-León, Artur Llobet, Francisca Rubio-Moscardo, Cristina Plata, Oriel Carreño, Noèlia Fernàndez-Castillo, Roser Corominas, Miguel A. Valverde, Alfons Macaya, Bru Cormand y José M. Fernández-Fernández. " A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis ", PNAS, 8 de gener, 2010, doi: 10.1073/pnas.0908359107.