Impaired Skeletal Development by Disruption of Presenilin-1 in Pigs and Generation of Novel Pig Models for Alzheimer's Disease.

ABSTRACT:

Background

Presenilin 1 (PSEN1) is one of the genes linked to the prevalence of early onset Alzheimer's disease. In mice, inactivation of Psen1 leads to developmental defects, including vertebral malformation and neural development. However, little is known about the role of PSEN1 during the development in other species.

Objective

To investigate the role of PSEN1 in vertebral development and the pathogenic mechanism of neurodegeneration using a pig model.

Methods

CRISPR/Cas9 system was used to generate pigs with different mutations flanking exon 9 of PSEN1, including those with a deleted exon 9 (Δexon9). Vertebral malformations in PSEN1 mutant pigs were examined by X-ray, micro-CT and micro-MRI. Neuronal cells from the brains of PSEN1 mutant pigs were analyzed by immu

SUBMITTER: Uh K 

PROVIDER: S-EPMC11492100 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature