Association of Presenilin2 genetic variations and beta-amyloid 42 level in cerebrospinal fluid of early-onset Alzheimer's disease patients

Two forms of Alzheimer's disease (AD) can be distinguished: late-onset form most common in older age groups and more rarely observed early-onset form when the symptoms appear before age 65. ß-amyloid 42 (Aß42) is the major component of neuritic plaques found in brains of AD patients. Decreased Aß42 level in cerebrospinal fluid (CSF) is a biomarker for AD development. Presenilin1 (PSEN1) and presenilin2 (PSEN2) enzymes cleave amyloid precursor protein (APP) as part of the gamma-secretase complex, the last step in Aß42 production. Although the mechanism of disease development is not clear, mutations in genes APP,…