CACNA1A mutations with clinical relevance in migraine affect Cav2.1 channel regulation by G proteins and SNAREs
Year: 2011
Type: dissertation
Abstract: Migraine is one of most disabling neurological disorders for which the genetic and molecular mechanisms are not fully resolved. This PhD thesis has focused on the functional characterization of two new missense mutations in CACNA1A, the pore forming subunit of the CaV2.1 channel, associated to migraine. The analysis of these mutations revealed that the functional interactions of CaV2.1 mutant channel with regulatory proteins implicated in synaptic transmission (i.e. G proteins and SNARE proteins) are altered and may be responsible for the observed clinical phenotype. Moreover, our studies also propose that mutations in CACNA1A can be not only causative of the disease but modifiers of the migraine symptoms as well.
Authors: Serra Pascual, AKALIN Selma
Language: English
Subfield: Clinical Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W620222615