GSN gene frameshift mutations in Alzheimer's disease.

ABSTRACT:

Background

The pathogenic missense mutations of the gelsolin (GSN) gene lead to familial amyloidosis of the Finnish type (FAF); however, our previous study identified GSN frameshift mutations existed in patients with Alzheimer's disease (AD). The GSN genotype-phenotype heterogeneity and the role of GSN frameshift mutations in patients with AD are unclear.

Method

In total, 1192 patients with AD and 1403 controls were screened through whole genome sequencing, and 884 patients with AD were enrolled for validation. Effects of GSN mutations were evaluated in vitro. GSN, Aβ42, Aβ40 and Aβ42/40 were detected in both plasma and cerebrospinal fluid (CSF).

Results

Six patients with AD with GSN P3fs and K346fs mutations (0.50%, 6/1192) w

SUBMITTER: Jiang Y 

PROVIDER: S-EPMC10314070 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature