This study investigates the functional and phenotypic impact of the common ACE Y215C missense mutation associated with Alzheimer’s disease risk. Although most carriers show reduced plasma ACE levels, substantial inter-individual variability was observed, highlighting the role of genetic modifiers and the need for combined blood ACE phenotyping and exome/genome sequencing for accurate risk assessment.
Anastasiia A. Buianova, Ivan A. Adzhubei, Olga V. Kryukova, Olga A. Kost, Iaroslav V. Mironenko, Alex S. Kozuch, Galit A. Ilyina, Anna A. Kuznetsova, Zhanna A. Repinskaia, Sergei M. Danilov