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Biomedicines
Special Issues
Alzheimer's Disease Genetics
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Alzheimer's Disease Genetics

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Neurobiology and Clinical Neuroscience".

Deadline for manuscript submissions: closed (30 November 2024) | Viewed by 3815

Special Issue Editors

Dr. Laura Ibanez

E-Mail Website
Guest Editor
1. Department of Psychiatry, Washington University in Saint Louis School of Medicine, 4444 Forest Park, Campus Box 8134, Saint Louis, MO 63110, USA
2. NeuroGenomics and Informatics Center, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA
3. Department of Neurology, Washington University in Saint Louis School of Medicine, Saint Louis, MO 63110, USA
Interests: neurodegeneration; biomarkers; Alzheimer’s disease; Parkinson’s disease
Special Issues, Collections and Topics in MDPI journals
Dr. Justin Miller

E-Mail Website
Guest Editor
1. Department of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY 40536, USA
2. Sanders-Brown Center on Aging, University of Kentucky, Lexington, KY 40536, USA
3. Division of Biomedical Informatics, Department of Internal Medicine, University of Kentucky, Lexington, KY 40536, USA
4. Department of Microbiology, Immunology, and Molecular Genetics, University of Kentucky, Lexington, KY 40536, USA
Interests: genetics; Alzheimer’s disease; neuroscience
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Alzheimer's disease and related dementias pose an increasing global health challenge, with a substantial genetic component underlying their development and progression. We encourage submissions on a wide range of topics related to the genetics of Alzheimer's disease, including, but not limited to:

  1. Genetic Variant Associations: Original research exploring the influence of specific rare and common genetic variants on Alzheimer's disease susceptibility and progression.
  2. Genetic Biomarkers: Papers elucidating the use of genetic markers for early diagnosis, disease risk assessment and personalized treatment strategies.
  3. Genetic Heterogeneity: Studies addressing the genetic heterogeneity of Alzheimer's disease and its implications for clinical practice.
  4. Epigenetics, Gene Regulation and Gene Expression: Investigations into epigenetic mechanisms, gene regulatory processes and transcriptomic studies that are relevant to Alzheimer's disease pathogenesis.
  5. Genetic Technologies: Articles focusing on how state-of-the-art technologies, including machine learning, improve Alzheimer's disease research.
  6. Emerging and Established Therapeutic Strategies: Reviews or original research discussing novel therapeutic interventions targeting the genetic aspects of Alzheimer’s disease, or how genetics relate to already-approved (or soon to be approved) therapies.

Dr. Laura Ibanez
Dr. Justin Miller
Guest Editors

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. Biomedicines 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
  • molecular targets
  • biomarker
  • machine learning
  • heterogeneity
  • therapeutics

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Published Papers (3 papers)

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Research

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13 pages, 724 KiB  
Article
Ramp Sequence May Explain Synonymous Variant Association with Alzheimer’s Disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA)
by Justin B. Miller, J. Anthony Brandon, Lauren M. Harmon, Hady W. Sabra, Chloe C. Lucido, Josue D. Gonzalez Murcia, Kayla A. Nations, Samuel H. Payne, Mark T. W. Ebbert, John S. K. Kauwe and Perry G. Ridge
Biomedicines 2025, 13(3), 739; https://doi.org/10.3390/biomedicines13030739 - 18 Mar 2025
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Abstract
Background: The synonymous variant NC_000007.14:g.100373690T>C (rs2405442:T>C) in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) gene was previously associated with decreased risk for Alzheimer’s disease (AD) in genome-wide association studies, but its biological impact is largely unknown. Objective: We [...] Read more.
Background: The synonymous variant NC_000007.14:g.100373690T>C (rs2405442:T>C) in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA) gene was previously associated with decreased risk for Alzheimer’s disease (AD) in genome-wide association studies, but its biological impact is largely unknown. Objective: We hypothesized that rs2405442:T>C decreases mRNA and protein levels by destroying a ramp of slowly translated codons at the 5′ end of PILRA. Methods: We assessed rs2405442:T>C predicted effects on PILRA through quantitative polymerase chain reactions (qPCRs) and enzyme-linked immunosorbent assays (ELISAs) using Chinese hamster ovary (CHO) cells. RESULTS: Both mRNA (p = 1.9184 × 10−13) and protein (p = 0.01296) levels significantly decreased in the mutant versus the wildtype in the direction that we predicted based on the destruction of a ramp sequence. Conclusions: We show that rs2405442:T>C alone directly impacts PILRA mRNA and protein expression, and ramp sequences may play a role in regulating AD-associated genes without modifying the protein product. Full article
(This article belongs to the Special Issue Alzheimer's Disease Genetics)
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12 pages, 600 KiB  
Article
Cerebral Amyloidosis in Individuals with Subjective Cognitive Decline: From Genetic Predisposition to Actual Cerebrospinal Fluid Measurements
by Stefanos N. Sampatakakis, Niki Mourtzi, Sokratis Charisis, Faidra Kalligerou, Eirini Mamalaki, Eva Ntanasi, Alex Hatzimanolis, Georgios Koutsis, Alfredo Ramirez, Jean-Charles Lambert, Mary Yannakoulia, Mary H. Kosmidis, Efthimios Dardiotis, Georgios Hadjigeorgiou, Paraskevi Sakka, Konstantinos Rouskas, Kostas Patas and Nikolaos Scarmeas
Biomedicines 2024, 12(5), 1053; https://doi.org/10.3390/biomedicines12051053 - 10 May 2024
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Abstract
The possible relationship between Subjective Cognitive Decline (SCD) and dementia needs further investigation. In the present study, we explored the association between specific biomarkers of Alzheimer’s Disease (AD), amyloid-beta 42 (Aβ42) and Tau with the odds of SCD using data from [...] Read more.
The possible relationship between Subjective Cognitive Decline (SCD) and dementia needs further investigation. In the present study, we explored the association between specific biomarkers of Alzheimer’s Disease (AD), amyloid-beta 42 (Aβ42) and Tau with the odds of SCD using data from two ongoing studies. In total, 849 cognitively normal (CN) individuals were included in our analyses. Among the participants, 107 had available results regarding cerebrospinal fluid (CSF) Aβ42 and Tau, while 742 had available genetic data to construct polygenic risk scores (PRSs) reflecting their genetic predisposition for CSF Aβ42 and plasma total Tau levels. The associations between AD biomarkers and SCD were tested using logistic regression models adjusted for possible confounders such as age, sex, education, depression, and baseline cognitive test scores. Abnormal values of CSF Aβ42 were related to 2.5-fold higher odds of SCD, while higher polygenic loading for Aβ42 was associated with 1.6-fold higher odds of SCD. CSF Tau, as well as polygenic loading for total Tau, were not associated with SCD. Thus, only cerebral amyloidosis appears to be related to SCD status, either in the form of polygenic risk or actual CSF measurements. The temporal sequence of amyloidosis being followed by tauopathy may partially explain our findings. Full article
(This article belongs to the Special Issue Alzheimer's Disease Genetics)
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Review

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14 pages, 1277 KiB  
Review
Human Endogenous Retroviruses and Their Putative Role in Pathogenesis of Alzheimer’s Disease, Inflammation, and Senescence
by Patrycja Kozubek, Julia Kuźniar, Magdalena Czaja, Hanna Sitka, Urszula Kochman and Jerzy Leszek
Biomedicines 2025, 13(1), 59; https://doi.org/10.3390/biomedicines13010059 - 30 Dec 2024
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Abstract
The human endogenous retroviruses (HERVs) are ancient exogenous retroviruses that were embedded in the germline over 30 million years ago and underwent an endogenization process. They make up roughly 8% of the human genome. HERVs exhibit many physiological and non-physiological functions; for example, [...] Read more.
The human endogenous retroviruses (HERVs) are ancient exogenous retroviruses that were embedded in the germline over 30 million years ago and underwent an endogenization process. They make up roughly 8% of the human genome. HERVs exhibit many physiological and non-physiological functions; for example, they play a role in the development of many diseases. They have been shown to affect carcinogenesis by modifying the expression of host genes through their functions as enhancers and promoters. Additionally, some molecules derived from HERVs may stimulate the immune system. Recently research has been focused on the effect of human endogenous retroviruses on the development of neurodegenerative diseases, including Alzheimer’s disease (AD), which is the most common cause of dementia. AD is also linked to a significant deterioration in quality of life. The article aims to highlight the potential role of HERVs in neurodegenerative diseases such as Alzheimer’s disease and senescence. Moreover, it is estimated that HERVs may be potential targets for diagnosis and therapy of AD. Full article
(This article belongs to the Special Issue Alzheimer's Disease Genetics)
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