ACE-Dependent Alzheimer's Disease: Circulating ACE Phenotypes in Heterozygous Carriers of Rare <i>ACE</i> Variants.

ABSTRACT: Damaging mutations of the Angiotensin I-converting enzyme (ACE) that result in low ACE levels may increase the risk of developing late-onset Alzheimer's disease (AD). We quantified blood ACE levels in EDTA-plasma from 147 subjects with 23 different heterozygous ACE mutations (and 70 controls) and estimated the effect of these mutations on ACE phenotype, using a set of monoclonal antibodies (mAbs) to ACE and two ACE substrates. We identified several mutations in both ACE domains (including the most frequent ACE mutation, Y215C), which led to decreased ACE levels in the blood, and thus could be considered as putative risk factors for late-onset AD. The precipitation of several ACE mutants (Q259R, A725P, C734Y) by specific mAbs changed significantly, and therefore, these

SUBMITTER: Mironenko IV 

PROVIDER: S-EPMC12471119 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature