کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5624665 | 1406256 | 2011 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Featured ArticlePresenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease Featured ArticlePresenilin enhancer-2 gene: Identification of a novel promoter mutation in a patient with early-onset familial Alzheimer's disease](/preview/png/5624665.png)
γ-Secretase proteins complex cleaves the amyloid precursor protein (APP) to generate amyloid-β (Aβ) peptides. Considerable evidence suggests that alterations in genes encoding these proteins exert their influence on the pathogenesis of familial Alzheimer's disease (FAD). Presenilin enhancer-2 gene (PEN-2) is a necessary component of the γ-Secretase complex. Recently, it has been shown that PEN-2 mutations could be involved in Alzheimer's disease (AD). We performed a mutational screening of all PEN-2 coding and promoter regions in a FAD cohort derived from Southern Italy. Four hundred and fifty-two subjects (FAD: 97; Controls: 355) were recruited for this study. We identified for the first time in a key region necessary for the promoter activity a novel 3 bp deletion in a subject with early-FAD. Our genetic data demonstrate that the mutant allele may influence the transcriptional activity of the PEN-2 gene. Although the effective role of the PEN-2 promoter deletion in AD is not entirely clear, these findings might lead to more studies on its functional and genetic role.
Journal: Alzheimer's & Dementia - Volume 7, Issue 6, November 2011, Pages 574-578