CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.

ABSTRACT:

Background

The Alzheimer's disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem repeats (VNTR) polymorphism in the gene, both likely cause a lower ABCA7 expression and hereby increased risk for AD. However, the exact mechanism of action remains unclear. By studying CSF biomarkers reflecting different types of AD-related pathological processes, we aim to get a better insight in those processes and establish a biomarker profile of mutation carriers.

Methods

The study population consisted of 229 AD patients for whom CSF was available and ABCA7 sequencing and VNTR genotyping had been performed. This included 28 PTC mutation and 16 pathogenic

SUBMITTER: Duchateau L 

PROVIDER: S-EPMC10634183 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature