Genetic underpinnings in Alzheimer’s disease – a review

Ahmed A. Moustafa; Mubashir Hassan; Doaa H. Hewedi; Iman Hewedi; Julia K. Garami; Hanay Al Ashwal; Nazar Zaki; Sung-Yum Seo; Vassilis Cutsuridis; Sergio L. Angulo; Joman Y. Natesh; Mohammad M. Herzallah; Dorota Frydecka; Błażej Misiak; Mohamed Salama; Wael Mohamed; Mohamad El Haj; Michael Hornberger

doi:10.1515/revneuro-2017-0036

Genetic underpinnings in Alzheimer’s disease – a review

Ahmed A. Moustafa, Mubashir Hassan, Doaa H. Hewedi, Iman Hewedi, Julia K. Garami, Hanay Al Ashwal, Nazar Zaki, Sung-Yum Seo, Vassilis Cutsuridis, Sergio L. Angulo, Joman Y. Natesh, Mohammad M. Herzallah, Dorota Frydecka, Błażej Misiak, Mohamed Salama, Wael Mohamed, Mohamad El Haj, Michael Hornberger

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Abstract

In this review, we discuss the genetic etiologies of Alzheimer’s disease (AD). Further, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD mediated 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 amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (Presenilin1/2, 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.

Corrigendum: https://doi.org/10.1515/revneuro-2018-0081

Original language	English
Pages (from-to)	21-38
Number of pages	18
Journal	Reviews in the Neurosciences
Volume	29
Issue number	1
Early online date	26 Sept 2017
DOIs	https://doi.org/10.1515/revneuro-2017-0036 https://doi.org/10.1515/revneuro-2018-0081
Publication status	Published - Jan 2018

Keywords

Alzheimer’s disease
genetics
clinical implications
Amyloid beta
AChE
BChE
EOAD
LOAD
APP
Presenilin
Immunotherapy
prevalence vs. penetrance of genes

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Accepted manuscriptAccepted author manuscript, 751 KB

Michael Hornberger
- M.Hornbergeruea.acuk
- Norwich Medical School - Professor of Applied Dementia Research
- Norwich Institute for Healthy Aging - Member
- Lifespan Health - Member
- Mental Health - Member
Person: Research Group Member, Research Centre Member, Academic, Teaching & Research

Cite this

Moustafa, A. A., Hassan, M., Hewedi, D. H., Hewedi, I., Garami, J. K., Al Ashwal, H., Zaki, N., Seo, S.-Y., Cutsuridis, V., Angulo, S. L., Natesh, J. Y., Herzallah, M. M., Frydecka, D., Misiak, B., Salama, M., Mohamed, W., El Haj, M., & Hornberger, M. (2018). Genetic underpinnings in Alzheimer’s disease – a review. Reviews in the Neurosciences, 29(1), 21-38. https://doi.org/10.1515/revneuro-2017-0036, https://doi.org/10.1515/revneuro-2018-0081

@article{e090e0a01f884ebbb0b37e68fb44cc00,

title = "Genetic underpinnings in Alzheimer{\textquoteright}s disease – a review",

abstract = "In this review, we discuss the genetic etiologies of Alzheimer{\textquoteright}s disease (AD). Further, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD mediated 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 amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (Presenilin1/2, 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. Corrigendum: https://doi.org/10.1515/revneuro-2018-0081",

keywords = "Alzheimer{\textquoteright}s disease, genetics, clinical implications, Amyloid beta, AChE, BChE, EOAD, LOAD, APP, Presenilin, Immunotherapy, prevalence vs. penetrance of genes",

author = "Moustafa, {Ahmed A.} and Mubashir Hassan and Hewedi, {Doaa H.} and Iman Hewedi and Garami, {Julia K.} and {Al Ashwal}, Hanay and Nazar Zaki and Sung-Yum Seo and Vassilis Cutsuridis and Angulo, {Sergio L.} and Natesh, {Joman Y.} and Herzallah, {Mohammad M.} and Dorota Frydecka and B{\l}a{\.z}ej Misiak and Mohamed Salama and Wael Mohamed and {El Haj}, Mohamad and Michael Hornberger",

note = "Corrigendum: https://doi.org/10.1515/revneuro-2018-0081",

year = "2018",

month = jan,

doi = "10.1515/revneuro-2017-0036",

language = "English",

volume = "29",

pages = "21--38",

journal = "Reviews in the Neurosciences",

issn = "0334-1763",

publisher = "De Gruyter",

number = "1",

}

Moustafa, AA, Hassan, M, Hewedi, DH, Hewedi, I, Garami, JK, Al Ashwal, H, Zaki, N, Seo, S-Y, Cutsuridis, V, Angulo, SL, Natesh, JY, Herzallah, MM, Frydecka, D, Misiak, B, Salama, M, Mohamed, W, El Haj, M & Hornberger, M 2018, 'Genetic underpinnings in Alzheimer’s disease – a review', Reviews in the Neurosciences, vol. 29, no. 1, pp. 21-38. https://doi.org/10.1515/revneuro-2017-0036, https://doi.org/10.1515/revneuro-2018-0081

TY - JOUR

T1 - Genetic underpinnings in Alzheimer’s disease – a review

AU - Moustafa, Ahmed A.

AU - Hassan, Mubashir

AU - Hewedi, Doaa H.

AU - Hewedi, Iman

AU - Garami, Julia K.

AU - Al Ashwal, Hanay

AU - Zaki, Nazar

AU - Seo, Sung-Yum

AU - Cutsuridis, Vassilis

AU - Angulo, Sergio L.

AU - Natesh, Joman Y.

AU - Herzallah, Mohammad M.

AU - Frydecka, Dorota

AU - Misiak, Błażej

AU - Salama, Mohamed

AU - Mohamed, Wael

AU - El Haj, Mohamad

AU - Hornberger, Michael

N1 - Corrigendum: https://doi.org/10.1515/revneuro-2018-0081

PY - 2018/1

Y1 - 2018/1

N2 - In this review, we discuss the genetic etiologies of Alzheimer’s disease (AD). Further, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD mediated 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 amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (Presenilin1/2, 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. Corrigendum: https://doi.org/10.1515/revneuro-2018-0081

AB - In this review, we discuss the genetic etiologies of Alzheimer’s disease (AD). Further, we review genetic links to protein signaling pathways as novel pharmacological targets to treat AD. Moreover, we also discuss the clumps of AD mediated 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 amyloid precursor protein (APP) gene was described in 1991. Later, AD was also associated with mutated early-onset (Presenilin1/2, 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. Corrigendum: https://doi.org/10.1515/revneuro-2018-0081

KW - Alzheimer’s disease

KW - genetics

KW - clinical implications

KW - Amyloid beta

KW - AChE

KW - BChE

KW - EOAD

KW - LOAD

KW - APP

KW - Presenilin

KW - Immunotherapy

KW - prevalence vs. penetrance of genes

U2 - 10.1515/revneuro-2017-0036

DO - 10.1515/revneuro-2017-0036

M3 - Article

SN - 0334-1763

VL - 29

SP - 21

EP - 38

JO - Reviews in the Neurosciences

JF - Reviews in the Neurosciences

IS - 1

ER -

Genetic underpinnings in Alzheimer’s disease – a review

Abstract

Keywords

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Michael Hornberger

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