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A populational review of the amyloid precursor protein gene mutations relevant to alzheimer’s disease

Published online by Cambridge University Press:  13 August 2021

I.M. Balmus ,
A. Ciobica  and
L.D. Gorgan
I.M. Balmus*
Affiliation:
Department Of Interdisciplinary Research In Science, Alexandru Ioan Cuza University of Iasi, Iasi, Romania
A. Ciobica
Affiliation:
Center Of Biomedical Research, Romanian Academy, Iasi, Romania Department Of Biology, Faculty Of Biology, Alexandru Ioan Cuza University of Iasi, Iasi, Romania Department Of Biology, Academy of Romanian Scientists, Bucharest, Romania
L.D. Gorgan
Affiliation:
Department Of Biology, Faculty Of Biology, Alexandru Ioan Cuza University of Iasi, Iasi, Romania
*
*Corresponding author.

Abstract

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Introduction

The genetic component of Alzheimer’s disease was previously studied and more than sixty amyloid precursor protein (APP) gene mutations were identified. However, the populational aspects of this component were scarcely discussed despite that many of the reports mentioned the demographic ancestry of the carriers or probands.

Objectives

In this short study, we aimed to review the APP gene mutations relevant to Alzheimer’s disease from a Populational Genetics point of view by evaluating the current literature for the demographic description of the carriers or families in which the mutations were identified.

Methods

In this regard, multiple genetic studies on the APP gene mutations relevant to Alzheimer’s disease were reviewed and the incidence of the mutations was analyzed considering the ancestry of the patients.

Results

We found many possible scenarios regarding the incidence of the APP gene mutations in Alzheimer’s disease patients and general population. On the one hand, we could identify several mutations which were present in more than one population (eg. V615M, V717I, V717L) and on the other hand, some mutations could be observed in certain populations (eg. E693delta, the Osaka mutation, which was until now observed in Japanese patients, while E693G was found in a Swedish family). One particular case is that of the isolated populations (eg. the Icelandic population in which an APP mutation protecting against Alzheimer’s disease is more frequent in the general population as compared to the patients).

Conclusions

We were able to identify several mutations which were characteristic to many populations, but also some population-specific features regarding the APP genotypes.

Disclosure

No significant relationships.

Keywords

Alzheimer’s diseaseamyloid precursor proteinPopulational Genetics
Type
Abstract
Information
European Psychiatry , Volume 64 , Special Issue S1: Abstracts of the 29th European Congress of Psychiatry , April 2021 , pp. S718
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
© The Author(s), 2021. Published by Cambridge University Press on behalf of the European Psychiatric Association
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