A Novel Missense Variant in SORBS2 Is Causative With Familial Alzheimer's Disease.

ABSTRACT:

Background

Alzheimer's disease (AD) is a common neurodegenerative disorder with a substantial genetic component. Despite advances in elucidating the genetic underpinnings of AD, much of its heritability remains unexplained. Discovering novel genetic variants and understanding their pathogenic roles are crucial challenges in AD research.

Objective

This study aimed to identify pathogenic genes and elucidate their role in familial early-onset AD (EOAD).

Methods

Blood samples from an EOAD pedigree and Sorbin and SH3 Domain-Containing Protein 2 (SORBS2) T189M transgenic mice were analyzed. Cognitive function was assessed via the Morris water maze (MWM). Protein expression was evaluated by western blotting, while amyloid-β (Aβ) levels were quantified via immunohistochemistr

SUBMITTER: Wang Q 

PROVIDER: S-EPMC11800137 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature