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: 30 November 2024 | Viewed by 1844

Special Issue Editors


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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: biomarkers; dementia; genetics; stroke; bioinformatics
Special Issues, Collections and Topics in MDPI journals

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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: bioinformatics; Alzheimer’s disease; genetics; evolution; machine learning; algorithms; pedigree analysis; rare variant analysis; codon usage bias; synonymous variation
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

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Keywords

  • Alzheimer’s disease
  • genetics
  • molecular targets
  • biomarker
  • machine learning
  • heterogeneity
  • therapeutics

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Published Papers (1 paper)

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Research

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
Viewed by 1321
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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