AntimiR targeting of microRNA-134 reduces seizures in a mouse model of Angelman syndrome.

ABSTRACT: Angelman syndrome (AS) is a severe neurodevelopmental disorder featuring ataxia, cognitive impairment, and drug-resistant epilepsy. AS is caused by mutations or deletion of the maternal copy of the paternally imprinted UBE3A gene, with current precision therapy approaches focusing on re-expression of UBE3A. Certain phenotypes, however, are difficult to rescue beyond early development. Notably, a cluster of microRNA binding sites was reported in the untranslated Ube3a1 transcript, including for miR-134, suggesting that AS may be associated with microRNA dysregulation. Here, we report levels of miR-134 and key targets are normal in the hippocampus of mice carrying a maternal deletion of Ube3a (Ube3a ^m-/p+ ). Nevertheless, intracerebroventr

SUBMITTER: Campbell A 

PROVIDER: S-EPMC9092865 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature