Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

ABSTRACT:

Background

Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. While early-onset AD has well-established genetic determinants, the genetic basis for late-onset AD remains less clear. This study investigates a large Italian family with late-onset autosomal dominant AD, identifying a novel rare missense variant in GRIN2C gene associated with the disease, and evaluates the functional impact of this variant.

Methods

Affected and unaffected members from a Northern Italian family were included. Genomic DNA from family members was extracted and initially screened for pathogenic mutations in APP, PSEN1, and PSEN2, and screened for 77 genes associated with neurodegenerative conditions using

SUBMITTER: Rubino E 

PROVIDER: S-EPMC11730494 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature