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A novel PSENEN mutation in a patient with complaints of memory loss and a family history of dementia
Author(s) -
Albani Diego,
Batelli Sara,
Pesaresi Marzia,
Prato Francesca,
Polito Letizia,
Forloni Gianluigi,
Pantieri Roberta
Publication year - 2007
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2007.04.375
Subject(s) - dementia , family history , mutation , memory impairment , psychology , medicine , genetics , psychiatry , biology , cognition , disease , gene
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.