A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.

ABSTRACT: Angelman syndrome is a neurodevelopmental disorder characterized by severe motor and cognitive deficits. It is caused by the loss of the maternally inherited allele of the imprinted ubiquitin-protein ligase E3A (UBE3A) gene. Rodent models of Angelman syndrome do not fully recapitulate all the symptoms associated with the condition and are limited as a preclinical model for therapeutic development. Here, we show that pigs (Sus scrofa) with a maternally inherited deletion of UBE3A (UBE3A^-/+) have altered postnatal behaviors, impaired vocalizations, reduced brain growth, motor incoordination, and ataxia. Neonatal UBE3A^-/+ pigs exhibited several symptoms observed in infants with Angelman syndrome, including hypotonia, suckling deficits,

SUBMITTER: Myers LS 

PROVIDER: S-EPMC12318228 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature