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Biomedicines
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Genetic Architecture of Dementia
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Genetic Architecture of Dementia

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

Deadline for manuscript submissions: closed (31 October 2023) | Viewed by 4056

Special Issue Editors

Prof. Dr. Fran Borovečki

E-Mail Website
Guest Editor
Department of Functional Genomics, Center for Translational and Clinical Research, University of Zagreb School of Medicine, University Hospital Center Zagreb, Zagreb, Croatia
Interests: genomics; translational medicine; neurology; neurodegenerative disorders
Prof. Dr. Tiago Fleming Outeiro

E-Mail Website
Guest Editor
Department of Experimental Neurodegeneration, University Medical Center Göttingen, Göttingen, Germany
Interests: neurodegeneration; Parkinson’s disease; Alzheimer’s disease; protein aggregation
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Dementia is considered to be a result of complex interactions between environmental factors and genetic changes. Currently, a lot of interest lies in research looking for genetic predictors of dementia. However, most genomic-related studies are limited to genetic risk factors with poorly understood consequences of genetic variability in clinical phenotype, as well as the undefined causative effect on molecular pathways underlying the disease.

This Special Issue entitled “Genetic Architecture of Dementia” will focus on the understanding of mechanisms involved in the development of different types of dementia seen from a genomic perspective using advanced state of the art methods to analyze genetic variability and gene interactions.

We aim to collect high-quality original articles, commentary, and review articles that focus on the study of genetic pathogenesis of possible key pathways of disease development. We highly encourage the submission of papers that support the results of their genetic research with confirmatory experiments on cell and/or animal models.

Understanding the complex genetic background underlying the development of dementia will make it easier to diagnose the causative disease before the onset of irreversible changes, but it also has the potential to aid the discovery of novel mechanisms for the development of targeted therapy.

Prof. Dr. Fran Borovečki
Prof. Dr. Tiago Fleming Outeiro
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

  • next-generation sequencing
  • new gene discovery
  • genotype-phenotype correlation
  • neurodegenerative diseases
  • dementia
  • neuroimmunology
  • biomarkers
  • genomics
  • molecular mechanism

Published Papers (2 papers)

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Research

13 pages, 1763 KiB  
Article
Serotonin Receptor Gene Polymorphisms Are Associated with Cerebrospinal Fluid, Genetic, and Neuropsychological Biomarkers of Alzheimer’s Disease
by Mirjana Babić Leko, Matea Nikolac Perković, Ena Španić, Dubravka Švob Štrac, Nikolina Pleić, Željka Vogrinc, Ivana Gunjača, Dora Bežovan, Gordana Nedić Erjavec, Nataša Klepac, Fran Borovečki, Tatijana Zemunik, Nela Pivac, Patrick R. Hof and Goran Šimić
Biomedicines 2022, 10(12), 3118; https://doi.org/10.3390/biomedicines10123118 - 02 Dec 2022
Cited by 1 | Viewed by 1696
Abstract
A decrease in serotonergic transmission throughout the brain is among the earliest pathological changes in Alzheimer’s disease (AD). Serotonergic receptors are also affected in AD. Polymorphisms in genes of serotonin (5HT) receptors have been mostly associated with behavioral and psychological symptoms of dementia [...] Read more.
A decrease in serotonergic transmission throughout the brain is among the earliest pathological changes in Alzheimer’s disease (AD). Serotonergic receptors are also affected in AD. Polymorphisms in genes of serotonin (5HT) receptors have been mostly associated with behavioral and psychological symptoms of dementia (BPSD). In this study, we examined if AD patients carrying different genotypes in 5HTR1B rs13212041, 5HTR2A rs6313 (T102C), 5HTR2C rs3813929 (−759C/T), and 5HTR6 rs1805054 (C267T) polymorphisms have a higher risk of faster disease progression (assessed by neuropsychological testing), are more prone to develop AD-related pathology (reflected by levels of cerebrospinal fluid [CSF] AD biomarkers), or have an association with an apolipoprotein E (APOE) haplotype. This study included 115 patients with AD, 53 patients with mild cognitive impairment (MCI), and 2701 healthy controls. AD biomarkers were determined in the CSF of AD and MCI patients using enzyme-linked immunosorbent assays (ELISA), while polymorphisms were determined using either TaqMan SNP Genotyping Assays or Illumina genotyping platforms. We detected a significant decrease in the CSF amyloid β1–42 (Aβ1–42) and an increase in p-tau181/Aβ1–42 ratio in carriers of the T allele in the 5HTR2C rs3813929 (−759C/T) polymorphism. A significantly higher number of APOE ε4 allele carriers was observed among individuals carrying a TT genotype within the 5HTR2A T102C polymorphism, a C allele within the 5HTR1B rs13212041 polymorphism, and a T allele within the 5HTR6 rs1805054 (C267T) polymorphism. Additionally, individuals carrying the C allele within the 5HTR1B rs13212041 polymorphism were significantly more represented among AD patients and had poorer performances on the Rey–Osterrieth test. Carriers of the T allele within the 5HTR6 rs1805054 had poorer performances on the MMSE and ADAS–Cog. As all four analyzed polymorphisms of serotonin receptor genes showed an association with either genetic, CSF, or neuropsychological biomarkers of AD, they deserve further investigation as potential early genetic biomarkers of AD. Full article
(This article belongs to the Special Issue Genetic Architecture of Dementia)
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16 pages, 1611 KiB  
Article
Epigenome-Wide Association Study in Peripheral Tissues Highlights DNA Methylation Profiles Associated with Episodic Memory Performance in Humans
by Yasmine Sommerer, Valerija Dobricic, Marcel Schilling, Olena Ohlei, David Bartrés-Faz, Gabriele Cattaneo, Ilja Demuth, Sandra Düzel, Sören Franzenburg, Janina Fuß, Ulman Lindenberger, Álvaro Pascual-Leone, Sanaz Sedghpour Sabet, Cristina Solé-Padullés, Josep M. Tormos, Valentin Max Vetter, Tanja Wesse, Andre Franke, Christina M. Lill and Lars Bertram
Biomedicines 2022, 10(11), 2798; https://doi.org/10.3390/biomedicines10112798 - 03 Nov 2022
Cited by 1 | Viewed by 1962
Abstract
The decline in episodic memory (EM) performance is a hallmark of cognitive aging and an early clinical sign in Alzheimer’s disease (AD). In this study, we conducted an epigenome-wide association study (EWAS) using DNA methylation (DNAm) profiles from buccal and blood samples for [...] Read more.
The decline in episodic memory (EM) performance is a hallmark of cognitive aging and an early clinical sign in Alzheimer’s disease (AD). In this study, we conducted an epigenome-wide association study (EWAS) using DNA methylation (DNAm) profiles from buccal and blood samples for cross-sectional (n = 1019) and longitudinal changes in EM performance (n = 626; average follow-up time 5.4 years) collected under the auspices of the Lifebrain consortium project. The mean age of participants with cross-sectional data was 69 ± 11 years (30–90 years), with 50% being females. We identified 21 loci showing suggestive evidence of association (p < 1 × 10−5) with either or both EM phenotypes. Among these were SNCA, SEPW1 (both cross-sectional EM), ITPK1 (longitudinal EM), and APBA2 (both EM traits), which have been linked to AD or Parkinson’s disease (PD) in previous work. While the EM phenotypes were nominally significantly (p < 0.05) associated with poly-epigenetic scores (PESs) using EWASs on general cognitive function, none remained significant after correction for multiple testing. Likewise, estimating the degree of “epigenetic age acceleration” did not reveal significant associations with either of the two tested EM phenotypes. In summary, our study highlights several interesting candidate loci in which differential DNAm patterns in peripheral tissue are associated with EM performance in humans. Full article
(This article belongs to the Special Issue Genetic Architecture of Dementia)
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