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A presenilin 1 mutation in the first case of Alzheimer's disease: revisited.

A presenilin 1 mutation in the first case of Alzheimer's disease: revisited.

Authors :
Rupp C
Beyreuther K
Maurer K
Kins S
Source :
Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2014 Nov; Vol. 10 (6), pp. 869-72. Date of Electronic Publication: 2014 Aug 15.
Publication Year :
2014

Abstract

Background: Recently, a single point mutation in the presenilin 1 (PSEN1) gene of the first described Alzheimer's disease (AD) patient Auguste D was reported by Müller and co-workers. However, the sequencing results of the DNA from a 100-year-old tissue contained some uncertainties.<br />Methods: We heat extracted DNA from an original histological slice of Auguste D's brain and used nested polymerase chain reaction for the amplification of different exons of genes known to be affected in familial forms of AD.<br />Results: Our sequencing analysis did not validate the reported mutation. Furthermore, an extended sequencing analysis of Auguste D's DNA revealed no indication of a nonsynonymous hetero- or homozygous mutation in the exons of APP, PSEN1, and PSEN2 genes comprising the already known familial AD mutations.<br />Conclusion: Despite the wealth of data from Müller and co-workers, our results emphasize the requirement of more detailed analysis of Auguste D's DNA in future.<br /> (Copyright © 2014 The Alzheimer's Association. Published by Elsevier Inc. All rights reserved.)

Details

Language :
English
ISSN :
1552-5279
Volume :
10
Issue :
6
Database :
MEDLINE
Journal :
Alzheimer's & dementia : the journal of the Alzheimer's Association
Publication Type :
Academic Journal
Accession number :
25130656
Full Text :
https://doi.org/10.1016/j.jalz.2014.06.005