Showing papers by "Diego Albani published in 2007"
TL;DR: The methodology and the first results of a representative study performed in 2003-2004 on people of 70 years and over, living in a typical town of North-East of Italy are reported.
23 citations
TL;DR: It is demonstrated that increased IL-6 levels in elderly are associated with higher disability and mortality, also independently of age and comorbidity.
23 citations
TL;DR: A case-control association study in the Italian population found a significant association between the presence of PSEN-1 [E318G] and FAD and noted a significant decrease in the Abeta(1-42)/Abeta( 1-40) ratio in PSEN, suggesting a peculiar biochemical effect of this mutation.
22 citations
TL;DR: The data support a role for PLAU_1 as an independent genetic risk factor for AD in the Italian population for those subjects who do not have the APOE-epsilon4 allele.
9 citations
TL;DR: Although the data do not definitively support a pathogenetic role for this mutation, it does not appear to be a common polymorphism, and further follow‐up is warranted in this family.
Abstract: 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.
8 citations