Genetic underpinnings in Alzheimer's disease - a review

doi:10.1515/revneuro-2017-0036

. 2018 Jan 26;29(1):21-38.

doi: 10.1515/revneuro-2017-0036.

Genetic underpinnings in Alzheimer's disease - a review

Ahmed A Moustafa¹, Mubashir Hassan², Doaa H Hewedi³, Iman Hewedi⁴, Julia K Garami¹, Hany Al Ashwal⁵, Nazar Zaki⁵, Sung-Yum Seo², Vassilis Cutsuridis⁶, Sergio L Angulo⁷, Joman Y Natesh⁸, Mohammad M Herzallah⁸, Dorota Frydecka⁹, Błażej Misiak¹⁰, Mohamed Salama¹¹, Wael Mohamed¹², Mohamad El Haj¹³, Michael Hornberger¹⁴

Affiliations

¹ School of Social Sciences and Psychology, Western Sydney University, 48 Martin Pl, Sydney, New South Wales 2000, Australia.
² Department of Biology, College of Natural Sciences, Kongju National University, Gongju, Chungcheongnam 32588, Republic of Korea.
³ Psychogeriatric Research Center, Institute of Psychiatry, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁴ Department of Pathology, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt.
⁵ College of Information Technology, Department of Computer Science and Software Eng-(CIT), United Arab Emirates University, Al-Ain 15551, United Arab Emirates.
⁶ Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology - Hellas, Nikolaou Plastira 100, GR-70013 Heraklion, Crete, Greece.
⁷ Departments of Physiology/Pharmacology, The Robert F. Furchgott Center for Neural and Behavioral Science, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
⁸ Center for Molecular and Behavioural Neuroscience, Rutgers University, Newark, NJ 07102, USA.
⁹ Wroclaw Medical University, Department and Clinic of Psychiatry, 50-367 Wrocław, Poland.
¹⁰ Wroclaw Medical University, Department of Genetics, 50-368 Wroclaw, Poland.
¹¹ School of Medicine, Mansoura University, Mansoura 35516, Egypt.
¹² International Islamic University Malaysia, Jalan Gombak, Selangor 53100, Malaysia.
¹³ University of Lille, CNRS, CHU Lille, UMR 9193 - SCALab - Sciences Cognitive Sciences Affectives, F-59000 Lille, France.
¹⁴ Norwich Medical School, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.

PMID: 28949931
DOI: 10.1515/revneuro-2017-0036

Free article

Genetic underpinnings in Alzheimer's disease - a review

Ahmed A Moustafa et al. Rev Neurosci. 2018.

Free article

. 2018 Jan 26;29(1):21-38.

doi: 10.1515/revneuro-2017-0036.

Authors

Affiliations

¹ School of Social Sciences and Psychology, Western Sydney University, 48 Martin Pl, Sydney, New South Wales 2000, Australia.
² Department of Biology, College of Natural Sciences, Kongju National University, Gongju, Chungcheongnam 32588, Republic of Korea.
³ Psychogeriatric Research Center, Institute of Psychiatry, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
⁴ Department of Pathology, Faculty of Medicine, Ain Shams University, Cairo 11566, Egypt.
⁵ College of Information Technology, Department of Computer Science and Software Eng-(CIT), United Arab Emirates University, Al-Ain 15551, United Arab Emirates.
⁶ Institute of Molecular Biology and Biotechnology, Foundation for Research and Technology - Hellas, Nikolaou Plastira 100, GR-70013 Heraklion, Crete, Greece.
⁷ Departments of Physiology/Pharmacology, The Robert F. Furchgott Center for Neural and Behavioral Science, SUNY Downstate Medical Center, Brooklyn, NY 11203, USA.
⁸ Center for Molecular and Behavioural Neuroscience, Rutgers University, Newark, NJ 07102, USA.
⁹ Wroclaw Medical University, Department and Clinic of Psychiatry, 50-367 Wrocław, Poland.
¹⁰ Wroclaw Medical University, Department of Genetics, 50-368 Wroclaw, Poland.
¹¹ School of Medicine, Mansoura University, Mansoura 35516, Egypt.
¹² International Islamic University Malaysia, Jalan Gombak, Selangor 53100, Malaysia.
¹³ University of Lille, CNRS, CHU Lille, UMR 9193 - SCALab - Sciences Cognitive Sciences Affectives, F-59000 Lille, France.
¹⁴ Norwich Medical School, University of East Anglia, Norwich Research Park, Norwich, NR4 7TJ, UK.

PMID: 28949931
DOI: 10.1515/revneuro-2017-0036

Erratum in

Corrigendum to: Genetic underpinnings in Alzheimer's disease - a review.
Moustafa AA, Hassan M, Hewedi DH, Hewedi I, Garami JK, Al Ashwal H, Zaki N, Seo SY, Cutsuridis V, Angulo SL, Natsheh JY, Herzallah MM, Frydecka D, Misiak B, Salama M, Mohamed W, El Haj M, Hornberger M. Moustafa AA, et al. Rev Neurosci. 2018 Sep 25;29(7):815. doi: 10.1515/revneuro-2018-0081. Rev Neurosci. 2018. PMID: 30179856 No abstract available.

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.

Keywords: AChE; APP; Alzheimer’s disease; BChE; amyloid-β; genetics; presenilin; prevalence vs. penetrance of genes.

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Genetic underpinnings in Alzheimer's disease - a review

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Genetic underpinnings in Alzheimer's disease - a review

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