Journal
NEUROSCIENCE LETTERS
Volume 438, Issue 2, Pages 257-259Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.neulet.2008.04.029
Keywords
Alzheimer's disease; presenilin 1; mutation; amyloid
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Funding
- NIA NIH HHS [P50 AG05681, R01 AG016208-09, R01 AG016208, P50 AG005681] Funding Source: Medline
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Over 160 rare genetic variants in presenilin 1 (PSEN1) are known to cause Alzheimer's disease (AD). In this study we screened a family with early-onset AD for mutations in PSEN1 using direct DNA sequencing. We identified a novel PSEN1 genetic variant which results in the substitution of a Proline with an Alanine at codon 117 (P117A). The P117A variant was present in all demented individuals and fifty percent of at risk individuals. This variant occurs at a site where three other disease-causing variants have been previously observed. In vitro functional studies demonstrate that the P117A variant results in an altered A beta 42/total AD ratio consistent with an AD causing mutation. The P117A variant is a novel mutation in PSEN1, which causes early-onset AD in an autosomal dominant manner. (C) 2008 Elsevier Ireland Ltd. All rights reserved.
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