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Brain Sciences
Special Issues
Genetic Mechanisms of Alzheimer’s Disease
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Genetic Mechanisms of Alzheimer’s Disease

A special issue of Brain Sciences (ISSN 2076-3425). This special issue belongs to the section "Molecular and Cellular Neuroscience".

Deadline for manuscript submissions: closed (10 February 2021) | Viewed by 3816

Special Issue Editor

Dr. Rebecca Sims

E-Mail Website
Guest Editor
Division of Psychological Medicine and Clinical Neuroscience, Cardiff University, Cardiff, UK
Interests: genome-wide association; sequencing; NGS; risk loci; early-onset Alzheimer’s disease

Special Issue Information

Dear Colleagues,

Alzheimer’s disease (AD) is the most common form of dementia, accounting for close to 70% of all cases. Genes are known to play a strong role in AD, explaining 58%–100% of disease variance, with APP, PSEN1, PSEN2, and APOE exhibiting large effects on disease, and the remaining common and rare risk loci having smaller, cumulative effects on disease risk. Over 50 loci are now implicated for AD; these are not randomly distributed with respect to function, as supported by pathway and regulatory element analyses. Notably, polygenic risk prediction shows up to 90% accuracy, meaning improved participant selection for clinical trials, precision medicine as well as human-based cellular modelling.

The present Issue combines primary research studies as well as expert perspectives and reviews that encompass the diverse work of the Alzheimer’s genetics field, and considers the interplay of genetics with other disease risk factors and processes. We look towards the future of Alzheimer’s genetics, considering sex- and ethnicity-specific risk as well as epistasis and gene–environment interactions and the impact of genetics on disease prevention, diagnosis, progression, and treatment.

Dr. Rebecca Sims
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Brain Sciences is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Alzheimer’s
  • AD
  • dementia
  • APP
  • PSEN1
  • PSEN2
  • APOE
  • cellular modelling
  • prevention
  • diagnosis
  • treatment

Published Papers (1 paper)

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Review

13 pages, 723 KiB  
Review
Searching the Dark Genome for Alzheimer’s Disease Risk Variants
by Rachel Raybould and Rebecca Sims
Brain Sci. 2021, 11(3), 332; https://doi.org/10.3390/brainsci11030332 - 6 Mar 2021
Cited by 10 | Viewed by 3444
Abstract
Sporadic Alzheimer’s disease (AD) is a complex genetic disease, and the leading cause of dementia worldwide. Over the past 3 decades, extensive pioneering research has discovered more than 70 common and rare genetic risk variants. These discoveries have contributed massively to our understanding [...] Read more.
Sporadic Alzheimer’s disease (AD) is a complex genetic disease, and the leading cause of dementia worldwide. Over the past 3 decades, extensive pioneering research has discovered more than 70 common and rare genetic risk variants. These discoveries have contributed massively to our understanding of the pathogenesis of AD but approximately half of the heritability for AD remains unaccounted for. There are regions of the genome that are not assayed by mainstream genotype and sequencing technology. These regions, known as the Dark Genome, often harbour large structural DNA variants that are likely relevant to disease risk. Here, we describe the dark genome and review current technological and bioinformatics advances that will enable researchers to shed light on these hidden regions of the genome. We highlight the potential importance of the hidden genome in complex disease and how these strategies will assist in identifying the missing heritability of AD. Identification of novel protein-coding structural variation that increases risk of AD will open new avenues for translational research and new drug targets that have the potential for clinical benefit to delay or even prevent clinical symptoms of disease. Full article
(This article belongs to the Special Issue Genetic Mechanisms of Alzheimer’s Disease)
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