Dampened α7 nAChR activity contributes to audiogenic seizures and hyperactivity in a mouse model of Fragile X Syndrome.

ABSTRACT: Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and often accompanied with debilitating pathologies including seizures and hyperactivity. FXS arises from a trinucleotide repeat expansion in the 5' UTR of the FMR1 gene that silences expression of the RNA-binding protein FMRP. Despite progress in understanding FMRP functions, the identification of effective therapeutic targets has lagged and at present there are no viable treatment options. Here we identify the α7 nicotinic acetylcholine receptor (nAChR) as candidate target for intervention in FXS. In the early postnatal hippocampus of Fmr1 knockout (KO) mice, an established pre-clinical model of FXS, the α7 nAChR accessory protein Ly6H is abnormally enriched at the neuronal surface and mis

SUBMITTER: Goebel S 

PROVIDER: S-EPMC11566027 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature