Genetic diseases caused by mutations of the auxiliary subunits of the sodium channel

The voltage dependent sodium channel, responsible of the excitability of the nervous system, the skeletal muscle and the heart, is composed of an alpha subunit, that forms the functional channel, and one or more accessory subunits beta that favor the docking of the channel in the membrane and regulate its function. Mutations in the gene encoding for the beta1 subunit lead to forms of epilepsy (GEFS+) or to heart disease (Brugada syndrome). We have characterized the defects introduced by different mutations of beta1, proposing the possibility of using drugs to correct docking defects.

Members:
Debora Baroni
Cristiana Picco