The University of Southampton
University of Southampton Institutional Repository

Genetic underpinnings in Alzheimer's disease - a review

Genetic underpinnings in Alzheimer's disease - a review
Genetic underpinnings in Alzheimer's disease - a review
In this review, we discuss the genetic etiologies of Alzheimer’s disease (AD). Furthermore, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD-m ediated genes according to their single nucleotide polymorphism mutations. Rigorous data mining approaches justified the significant role of genes in AD prevalence. Pedigree analysis and twin studies suggest that genetic components are part of the etiology, rather than only being risk factors for AD. The first autosomal dominant mutation in the amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (presenilin 1/2, PSEN1/2 and APP) and late-onset (apolipoprotein E, ApoE) genes. Genome-wide association and linkage analysis studies with identified multiple genomic areas have implications for the treatment of AD. We conclude this review with future directions and clinical implications of genetic research in AD.
AA, Moustafa
b60bdc88-ad85-4d2a-80c2-ed2201265769
Hassan, M
61b2e9ed-e2bf-4bdd-b993-57e90b107f7e
DH, Hewedi
b9bef09c-8ea7-4d2f-8127-805815318140
Hewedi, I
3bc03f85-2dae-41dc-bd62-ae6e983264d3
JK, Garami
2db62e0c-51d8-49c1-b148-274b2fb7ed66
Al, Ashwal H
5f50d9b4-a452-4d8e-8a0b-780a0f7e61e6
Zaki, N
461b0d9f-3e52-4468-b91b-5d462e8bc136
SY, Seo
c184868d-46c7-4da7-a5c4-8fce7de7aa30
Cutsuridis, V
64c8e620-3307-4e1e-821d-e9a67efee661
SL, Angulo
1e5f1a56-5141-49cb-a12c-a2a9fb228243
JY, Natesh
fe1057ed-ce28-4d51-bba3-f6eeb43ba0ac
MM, Herzallah
b65b69db-4515-42bd-8085-94ccb6b4cbfa
Frydecka, D
67b58d44-bbbd-4ccc-b2dc-2c60aca6bd91
Hornberger, M
a48c1c63-422a-4c11-9a51-c7be0aa3026d
AA, Moustafa
b60bdc88-ad85-4d2a-80c2-ed2201265769
Hassan, M
61b2e9ed-e2bf-4bdd-b993-57e90b107f7e
DH, Hewedi
b9bef09c-8ea7-4d2f-8127-805815318140
Hewedi, I
3bc03f85-2dae-41dc-bd62-ae6e983264d3
JK, Garami
2db62e0c-51d8-49c1-b148-274b2fb7ed66
Al, Ashwal H
5f50d9b4-a452-4d8e-8a0b-780a0f7e61e6
Zaki, N
461b0d9f-3e52-4468-b91b-5d462e8bc136
SY, Seo
c184868d-46c7-4da7-a5c4-8fce7de7aa30
Cutsuridis, V
64c8e620-3307-4e1e-821d-e9a67efee661
SL, Angulo
1e5f1a56-5141-49cb-a12c-a2a9fb228243
JY, Natesh
fe1057ed-ce28-4d51-bba3-f6eeb43ba0ac
MM, Herzallah
b65b69db-4515-42bd-8085-94ccb6b4cbfa
Frydecka, D
67b58d44-bbbd-4ccc-b2dc-2c60aca6bd91
Hornberger, M
a48c1c63-422a-4c11-9a51-c7be0aa3026d

AA, Moustafa, Hassan, M, DH, Hewedi, Hewedi, I, JK, Garami, Al, Ashwal H, Zaki, N, SY, Seo, Cutsuridis, V, SL, Angulo, JY, Natesh, MM, Herzallah, Frydecka, D and Hornberger, M (2017) Genetic underpinnings in Alzheimer's disease - a review. Reviews in the Neurosciences. (doi:10.1515/revneuro-2017-0036).

Record type: Article

Abstract

In this review, we discuss the genetic etiologies of Alzheimer’s disease (AD). Furthermore, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD-m ediated genes according to their single nucleotide polymorphism mutations. Rigorous data mining approaches justified the significant role of genes in AD prevalence. Pedigree analysis and twin studies suggest that genetic components are part of the etiology, rather than only being risk factors for AD. The first autosomal dominant mutation in the amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (presenilin 1/2, PSEN1/2 and APP) and late-onset (apolipoprotein E, ApoE) genes. Genome-wide association and linkage analysis studies with identified multiple genomic areas have implications for the treatment of AD. We conclude this review with future directions and clinical implications of genetic research in AD.

This record has no associated files available for download.

More information

e-pub ahead of print date: 26 September 2017

Identifiers

Local EPrints ID: 505219
URI: http://eprints.soton.ac.uk/id/eprint/505219
PURE UUID: 6b7c274b-a11a-4aaa-b8c7-fc3f77907977
ORCID for M Hornberger: ORCID iD orcid.org/0000-0002-2214-3788

Catalogue record

Date deposited: 02 Oct 2025 16:33
Last modified: 03 Oct 2025 02:18

Export record

Altmetrics

Contributors

Author: Moustafa AA
Author: M Hassan
Author: Hewedi DH
Author: I Hewedi
Author: Garami JK
Author: Ashwal H Al
Author: N Zaki
Author: Seo SY
Author: V Cutsuridis
Author: Angulo SL
Author: Natesh JY
Author: Herzallah MM
Author: D Frydecka
Author: M Hornberger ORCID iD

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×