✦ LIBER ✦

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: Two novel mutations

✍ Scribed by J. Aldudo; M.J. Bullido; F. Valdivieso

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 331 KB
Volume: 14
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(199911)14:5<433::aid-humu10>3.0.co;2-k

No coin nor oath required. For personal study only.

✦ Synopsis

Many different mutations that cause Alzheimer's disease (AD) have been found in the presenilin-1 gene (PSEN1) and are associated with the most aggressive forms of the disease. With the aim of screening for PSEN1 genetic variations, we developed a method based on denaturing gradient gel electrophoresis (DGGE) that allows the mutational analysis of all the coding exons and the proximal promoter of PSEN1 using only four DGGE gels. The analysis by this methodology of a sample of 58 early-onset AD (EOAD) patients nonselected for family history resulted in finding four genetic variants within the PSEN1 coding region, two of which are novel mutations (M233L and A409T), whereas the other two have been reported previously (L282R and E318G). We also found a novel mutation within the PSEN1 proximal promoter (-280 C®G) that, interestingly, provokes significant changes in the transcriptional activity of the gene in cell lines of neuronal and astrocytic, but not hepatic origin. These data strongly suggest that the region around -280 of PSEN1 promoter contains a regulatory element that controls its transcription specifically in neural cells.

📜 SIMILAR VOLUMES

Novel mutations in the promoter and codi

Novel mutations in the promoter and coding region of the human 5-HT1A receptor gene and association analysis in schizophrenia

✍ Kawanishi, Yoichi; Harada, Shoji; Tachikawa, Hirokazu; Okubo, Takehito; Shiraish 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views

Dysfunction of serotonin systems has been implicated in schizophrenia. In the present study, the human 5-HT 1A receptor gene containing the 5 untranslated region was screened in order to detect genetic variations, through which alteration of protein function or level of expression might contribute t

A novel missense mutation (G209R) in exo

A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease

✍ Naoya Sugiyama; Kyoko Suzuki; Takehiko Matsumura; Chiaki Kawanishi; Hideki Onish 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 17 KB 👁 1 views

Over fifty missense mutations in the presenilin-1 (PSEN1) gene have been reported in families with presenile familial Alzheimer's disease (FAD). We describe a novel missense mutation (G209R) within the predicted fourth transmembrane domain of the PSEN1 in a Japanese family with presenile FAD. The af

Two novel mutations in the MPZ gene codi

Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]

✍ Nisrine Bissar-Tadmouri; Yesim Gulsen-Parman; Philippe Latour; Feza Deymeer; Pir 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

Missense mutation in exon 11 (codon 378)

Missense mutation in exon 11 (codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification

✍ Roger Besançon; Alberta Lorenzi; Marc Cruts; Sandrine Radawiec; Franck Sturtz; E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 2 views

Mutations in the presenilin-1 (PS1) gene account for the majority of familial early-onset Alzheimer's disease (EOAD) cases. We screened the coding part of the PS1 gene for the presence of mutations in a French family with EOAD, using single strand conformation polymorphism (SSCP) analysis. Patients