Hyperthermic seizures and aberrant cellular homeostasis in Drosophila dystrophic muscles.

ABSTRACT: In humans, mutations in the Dystrophin Glycoprotein Complex (DGC) cause muscular dystrophies (MDs) that are associated with muscle loss, seizures and brain abnormalities leading to early death. Using Drosophila as a model to study MD we have found that loss of Dystrophin (Dys) during development leads to heat-sensitive abnormal muscle contractions that are repressed by mutations in Dys's binding partner, Dystroglycan (Dg). Hyperthermic seizures are independent from dystrophic muscle degeneration and rely on neurotransmission, which suggests involvement of the DGC in muscle-neuron communication. Additionally, reduction of the Ca(2+) regulator, Calmodulin or Ca(2+) channel blockage rescues the seizing phenotype, pointing to Ca(2+) mis-regulation in dystrophic muscles. Also, Dys and Dg mutant

SUBMITTER: Marrone AK 

PROVIDER: S-EPMC3216534 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature