Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5623568 | Alzheimer's & Dementia | 2007 | 4 Pages |
Presenilin enhancer-2 (PSENEN) is a fundamental component of the γ-secretase protein complex involved in β-amyloid precursor protein (βAPP) processing, a key event in Alzheimer's disease (AD) etiopathogenesis. In a mild cognitive impairment (MCI)-diagnosed woman, belonging to a family with a positive history for AD, we found that a novel PSENEN mutation (S73F) was the only genetic alteration of relevance. The mutation was absent in 253 age-matched controls. In an attempt to learn the biochemical effects of this mutation, we cultured skin primary fibroblasts from the patient and her daughter, and we assessed Aβ(1-40) and Aβ(1-42) production. We did not find any relevant differences in comparison to age-matched, normal subjects. Although our data do not definitively support a pathogenetic role for this mutation, it does not appear to be a common polymorphism. Further follow-up is warranted in this family.