Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.2
2.8
Journals
Genes
Special Issues
Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention
share announcement

Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (15 February 2023) | Viewed by 6837

Special Issue Editor

Dr. Suk Ling Ma

E-Mail Website
Guest Editor
Department of Psychiatry, Chinese University of Hong Kong, Shatin, Hong Kong
Interests: genetics; dementia; diagnostic test for early diagnosis; biomarkers

Special Issue Information

Dear Colleagues,

Alzheimer’s disease (AD) is the most common neurodegenerative disorder, affecting over 55 million people, and this number is expected to increase exponentially with the increasing aging population worldwide. Some large scale genetic analysis trying to elucidate the cause of the AD has been carried out; however, the causes remain unclear.

In this Special Issue, we will focus on the genetic findings on AD which may facilitate early diagnosis by identifying the high-risk groups or those with faster cognitive decline. Studies related to genetic markers, genome-wide association studies, gene expression analysis, RNA-Seq and bioinformatic analysis on AD are welcome.

Dr. Suk Ling Ma
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. Genes 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 2600 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 disease
  • genetics
  • gene pathways
  • pathogenesis

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.

Further information on MDPI's Special Issue polices can be found here.

Published Papers (3 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

Jump to: Review

13 pages, 3147 KiB  
Article
Identification and Quantitation of Novel ABI3 Isoforms Relative to Alzheimer’s Disease Genetics and Neuropathology
by Andrew K. Turner, Benjamin C. Shaw, James F. Simpson and Steven Estus
Genes 2022, 13(9), 1607; https://doi.org/10.3390/genes13091607 - 8 Sep 2022
Cited by 4 | Viewed by 1912
Abstract
Elucidating the actions of genetic polymorphisms associated with the risk of Alzheimer’s disease (AD) may provide novel insights into underlying mechanisms. Two polymorphisms have implicated ABI3 as a modulator of AD risk. Here, we sought to identify ABI3 isoforms expressed in human AD [...] Read more.
Elucidating the actions of genetic polymorphisms associated with the risk of Alzheimer’s disease (AD) may provide novel insights into underlying mechanisms. Two polymorphisms have implicated ABI3 as a modulator of AD risk. Here, we sought to identify ABI3 isoforms expressed in human AD and non-AD brain, quantify the more abundant isoforms as a function of AD genetics and neuropathology, and provide an initial in vitro characterization of the proteins produced by these novel isoforms. We report that ABI3 expression is increased with AD neuropathology but not associated with AD genetics. Single-cell RNAseq of APP/PS1 mice showed that Abi3 is primarily expressed by microglia, including disease-associated microglia. In human brain, several novel ABI3 isoforms were identified, including isoforms with partial or complete loss of exon 6. Expression of these isoforms correlated tightly with total ABI3 expression but were not influenced by AD genetics. Lastly, we performed an initial characterization of these isoforms in transfected cells and found that, while full-length ABI3 was expressed in a dispersed punctate fashion within the cytosol, isoforms lacking most or all of exon six tended to form extensive protein aggregates. In summary, ABI3 expression is restricted to microglia, is increased with Alzheimer’s neuropathology, and includes several isoforms that display a variable tendency to aggregate when expressed in vitro. Full article
(This article belongs to the Special Issue Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention)
►▼ Show Figures

Figure 1

11 pages, 1335 KiB  
Article
Prediction of Alzheimer’s Disease by a Novel Image-Based Representation of Gene Expression
by Habil Kalkan, Umit Murat Akkaya, Güldal Inal-Gültekin and Ana Maria Sanchez-Perez
Genes 2022, 13(8), 1406; https://doi.org/10.3390/genes13081406 - 8 Aug 2022
Cited by 2 | Viewed by 2148
Abstract
Early intervention can delay the progress of Alzheimer’s Disease (AD), but currently, there are no effective prediction tools. The goal of this study is to generate a reliable artificial intelligence (AI) model capable of detecting the high risk of AD, based on gene [...] Read more.
Early intervention can delay the progress of Alzheimer’s Disease (AD), but currently, there are no effective prediction tools. The goal of this study is to generate a reliable artificial intelligence (AI) model capable of detecting the high risk of AD, based on gene expression arrays from blood samples. To that end, a novel image-formation method is proposed to transform single-dimension gene expressions into a discriminative 2-dimensional (2D) image to use convolutional neural networks (CNNs) for classification. Three publicly available datasets were pooled, and a total of 11,618 common genes’ expression values were obtained. The genes were then categorized for their discriminating power using the Fisher distance (AD vs. control (CTL)) and mapped to a 2D image by linear discriminant analysis (LDA). Then, a six-layer CNN model with 292,493 parameters were used for classification. An accuracy of 0.842 and an area under curve (AUC) of 0.875 were achieved for the AD vs. CTL classification. The proposed method obtained higher accuracy and AUC compared with other reported methods. The conversion to 2D in CNN offers a unique advantage for improving accuracy and can be easily transferred to the clinic to drastically improve AD (or any disease) early detection. Full article
(This article belongs to the Special Issue Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention)
►▼ Show Figures

Figure 1

Review

Jump to: Research

13 pages, 929 KiB  
Review
Is Mitochondria DNA Variation a Biomarker for AD?
by Ruonan Gao and Suk Ling Ma
Genes 2022, 13(10), 1789; https://doi.org/10.3390/genes13101789 - 3 Oct 2022
Cited by 4 | Viewed by 2047
Abstract
Alzheimer’s Disease (AD) is the most prevalent form of dementia and is characterized by progressive memory loss and cognitive decline. The underlying mechanism of AD has not been fully understood. At present there is no method to detect AD at its early stage. [...] Read more.
Alzheimer’s Disease (AD) is the most prevalent form of dementia and is characterized by progressive memory loss and cognitive decline. The underlying mechanism of AD has not been fully understood. At present there is no method to detect AD at its early stage. Recent studies indicate that mitochondria dysfunction is related to AD pathogenesis. Altered mitochondria functions are found in AD and influence both amyloid-β (Aβ) and tau pathology. Variations in mitochondria DNA (mtDNA) lead to a change in energy metabolism in the brain and contribute to AD. MtDNA can reflect the status of mitochondria and therefore play an essential role in AD. In this review, we summarize the changes in mtDNA and mtDNA mutations in AD patients and discuss the possibility of mtDNA being a biomarker for the early diagnosis of AD. Full article
(This article belongs to the Special Issue Genetics of Alzheimer’s Disease: Clues for Early Diagnosis and Intervention)
►▼ Show Figures

Graphical abstract

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-3
Back to TopTop