Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy.

ABSTRACT: Dystroglycan (Dag1) is a transmembrane glycoprotein that links the extracellular matrix to the actin cytoskeleton. Mutations in Dag1 or the genes required for its glycosylation result in dystroglycanopathy, a type of congenital muscular dystrophy characterized by a wide range of phenotypes including muscle weakness, brain defects, and cognitive impairment. We investigated interneuron (IN) development, synaptic function, and associated seizure susceptibility in multiple mouse models that reflect the wide phenotypic range of dystroglycanopathy neuropathology. Mice that model severe dystroglycanopathy due to forebrain deletion of Dag1 or Pomt2, which is required for Dystroglycan glycosylation, show significant impairment of CCK⁺/CB₁R⁺ IN d

SUBMITTER: Jahncke JN 

PROVIDER: S-EPMC10942650 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature