Heterozygous Gnal Mice Are a Novel Animal Model with Which to Study Dystonia Pathophysiology.

ABSTRACT: Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions and its pathophysiological mechanisms are still poorly understood. Dominant mutations of the GNAL gene are a cause of isolated dystonia (DYT25) in patients. Some mutations result in a complete loss of function of the encoded protein, Gα_olf, an adenylyl-cyclase-stimulatory G-protein highly enriched in striatal projection neurons, where it mediates the actions of dopamine and adenosine. We used male and female heterozygous Gnal knock-out mice (Gnal^+/-) to study how GNAL haplodeficiency is implicated in dystonia. In basal conditions, no overt dystonic movements or postures or change in locomotor activity were observed. However, Gnal haploinsufficienc

SUBMITTER: Pelosi A 

PROVIDER: S-EPMC6705700 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature