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Epigenetic Regulation in Neurodegeneration Disease 2.0

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 9789

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Dr. Laszlo Bodai

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Department of Biochemistry and Molecular Biology, Faculty of Science and Informatics, University of Szeged, Szeged, Hungary
Interests: molecular pathogenesis of neurodegeneration; Huntington’s disease; Alzheimer’s disease; transcriptomics; miRNAs; epigenetic regulation of transcription; histone variants and histone modifications; animal models
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Dr. Nora Zsindely

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Department of Biochemistry and Molecular Biology, Faculty of Science and Informatics, University of Szeged, Közép fasor 52, H-6726 Szeged, Hungary
Interests: genetics; gene expression regulation; chromatin biology; histone modifications

Special Issue Information

Dear Colleagues,

Neurodegeneration disorders are devastating diseases that cause symptoms ranging from movement and psychiatric disturbances to cognitive decline and might have fatal consequences. Despite decades of intensive research, an effective cure is not available for most neurodegenerative diseases; therefore, a better understanding of the molecular basis of their pathogenesis is imperative. Despite the diversity of affected brain structures and the multifaceted pathogenesis, some pathological processes seem to be common for several neurodegenerative disorders. One of these pathogenic mechanisms is epigenetic dysregulation, an alteration in the structure and functional state of chromatin that can be the consequence of altered DNA methylation patterns, or dysregulated histone post-translational modifications, among others. As the state of chromatin regulates all DNA-templated processes, including gene transcription, it has widespread effects on various cellular mechanisms. The aim of this Special Issue is to shed light on recent advances in research into the epigenetic background of neurodegenerative disorders and the potential applicability of epigenetic therapy. For this Special Issue, we welcome the following manuscript categories: original scientific research articles, short communications, and review articles.

Dr. Laszlo Bodai
Dr. Nora Zsindely
Guest Editors

Manuscript Submission Information

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Keywords

neurodegeneration
neurodegenerative disorders
Alzheimer’s disease
Parkinson’s disease
polyglutamine diseases
epigenetics
chromatin
histone modifications
DNA methylation
chromatin remodeling

Published Papers (5 papers)

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Research

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21 pages, 4021 KiB

Open AccessArticle

Dysregulated miRNA and mRNA Expression Affect Overlapping Pathways in a Huntington’s Disease Model

by Nóra Zsindely, Gábor Nagy, Fruzsina Siági, Anita Farkas and László Bodai

Int. J. Mol. Sci. 2023, 24(15), 11942; https://doi.org/10.3390/ijms241511942 - 26 Jul 2023

Cited by 2 | Viewed by 1352

Abstract

Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in the Huntingtin gene. Transcriptional dysregulation is one of the main cellular processes affected by mutant Huntingtin (mHtt). In this study, we investigate the alterations in miRNA and mRNA expression levels in a Drosophila model of HD by RNA sequencing and assess the functional effects of misregulated miRNAs in vivo. We found that in head samples of HD flies, the level of 32 miRNAs changed significantly; half of these were upregulated, while the other half were downregulated. After comparing miRNA and mRNA expression data, we discovered similarities in the impacted molecular pathways. Additionally, we observed that the putative targets of almost all dysregulated miRNAs were overrepresented among the upregulated mRNAs. We tested the effects of overexpression of five misregulated miRNAs in the HD model and found that while mir-10 and mir-219 enhanced, mir-137, mir-305, and mir-1010 ameliorated mHtt-induced phenotypes. Based on our results, we propose that while altered expression of mir-10, mir-137, and mir-1010 might be part of HD pathology, the upregulation of mir-305 might serve as a compensatory mechanism as a response to mHtt-induced transcriptional dysregulation. Full article

(This article belongs to the Special Issue Epigenetic Regulation in Neurodegeneration Disease 2.0)

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19 pages, 3210 KiB

Open AccessArticle

Prenatal SAMe Treatment Changes via Epigenetic Mechanism/s USVs in Young Mice and Hippocampal Monoamines Turnover at Adulthood in a Mouse Model of Social Hierarchy and Depression

by Maria Becker, Denis Gorobets, Elena Shmerkin, Liza Weinstein-Fudim, Albert Pinhasov and Asher Ornoy

Int. J. Mol. Sci. 2023, 24(13), 10721; https://doi.org/10.3390/ijms241310721 - 27 Jun 2023

Viewed by 954

Abstract

The role of hippocampal monoamines and their related genes in the etiology and pathogenesis of depression-like behavior, particularly in impaired sociability traits and the meaning of changes in USVs emitted by pups, remains unknown. We assessed the effects of prenatal administration of S-adenosyl-methionine (SAMe) in Sub mice that exhibit depressive-like behavior on serotonergic, dopaminergic and noradrenergic metabolism and the activity of related genes in the hippocampus (HPC) in adulthood in comparison to saline-treated control Sub mice. During postnatal days 4 and 8, we recorded and analyzed the stress-induced USVs emitted by the pups and tried to understand how the changes in the USVs’ calls may be related to the changes in the monoamines and the activity of related genes. The recordings of the USVs showed that SAMe induced a reduction in the emitted flat and one-frequency step-up call numbers in PND4 pups, whereas step-down type calls were significantly increased by SAMe in PND8 pups. The reduction in the number of calls induced by SAMe following separation from the mothers implies a reduction in anxiety, which is an additional sign of decreased depressive-like behavior. Prenatal SAMe increased the concentrations of serotonin in the HPC in both male and female mice without any change in the levels of 5HIAA. It also decreased the level of the dopamine metabolite DOPAC in females. There were no changes in the levels of norepinephrine and metabolites. Several changes in the expression of genes associated with monoamine metabolism were also induced by prenatal SAMe. The molecular and biochemical data obtained from the HPC studies are generally in accordance with our previously obtained data from the prefrontal cortex of similarly treated Sub mice on postnatal day 90. The changes in both monoamines and their gene expression observed 2–3 months after SAMe treatment are associated with the previously recorded behavioral improvement and seem to demonstrate that SAMe is effective via an epigenetic mechanism. Full article

(This article belongs to the Special Issue Epigenetic Regulation in Neurodegeneration Disease 2.0)

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Review

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24 pages, 1014 KiB

Open AccessReview

Emerging Roles for DNA 6mA and RNA m6A Methylation in Mammalian Genome

by Leijie Xie, Xiaosong Zhang, Jiaxiang Xie, Yanru Xu, Xiao-Jiang Li and Li Lin

Int. J. Mol. Sci. 2023, 24(18), 13897; https://doi.org/10.3390/ijms241813897 - 9 Sep 2023

Cited by 1 | Viewed by 1585

Abstract

Epigenetic methylation has been shown to play an important role in transcriptional regulation and disease pathogenesis. Recent advancements in detection techniques have identified DNA N6-methyldeoxyadenosine (6mA) and RNA N6-methyladenosine (m6A) as methylation modifications at the sixth position of adenine in DNA and RNA, respectively. While the distributions and functions of 6mA and m6A have been extensively studied in prokaryotes, their roles in the mammalian brain, where they are enriched, are still not fully understood. In this review, we provide a comprehensive summary of the current research progress on 6mA and m6A, as well as their associated writers, erasers, and readers at both DNA and RNA levels. Specifically, we focus on the potential roles of 6mA and m6A in the fundamental biological pathways of the mammalian genome and highlight the significant regulatory functions of 6mA in neurodegenerative diseases. Full article

(This article belongs to the Special Issue Epigenetic Regulation in Neurodegeneration Disease 2.0)

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18 pages, 1553 KiB

Open AccessReview

The Role of Hydrogen Sulfide (H₂S) in Epigenetic Regulation of Neurodegenerative Diseases: A Systematic Review

by Bombonica Gabriela Dogaru and Constantin Munteanu

Int. J. Mol. Sci. 2023, 24(16), 12555; https://doi.org/10.3390/ijms241612555 - 8 Aug 2023

Cited by 7 | Viewed by 1751

Abstract

This review explores the emerging role of hydrogen sulfide (H₂S) in modulating epigenetic mechanisms involved in neurodegenerative diseases. Accumulating evidence has begun to elucidate the multifaceted ways in which H₂S influences the epigenetic landscape and, subsequently, the progression of various neurodegenerative disorders, including Alzheimer’s, Parkinson’s, and Huntington’s disease. H₂S can modulate key components of the epigenetic machinery, such as DNA methylation, histone modifications, and non-coding RNAs, impacting gene expression and cellular functions relevant to neuronal survival, inflammation, and synaptic plasticity. We synthesize recent research that positions H₂S as an essential player within this intricate network, with the potential to open new therapeutic avenues for these currently incurable conditions. Despite significant progress, there remains a considerable gap in our understanding of the precise molecular mechanisms and the potential therapeutic implications of modulating H₂S levels or its downstream targets. We conclude by identifying future directions for research aimed at exploiting the therapeutic potential of H₂S in neurodegenerative diseases. Full article

(This article belongs to the Special Issue Epigenetic Regulation in Neurodegeneration Disease 2.0)

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24 pages, 3213 KiB

Open AccessReview

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature

by Špela Miroševič, Shivang Khandelwal, Petra Sušjan, Nina Žakelj, David Gosar, Vida Forstnerič, Duško Lainšček, Roman Jerala and Damjan Osredkar

Int. J. Mol. Sci. 2022, 23(20), 12564; https://doi.org/10.3390/ijms232012564 - 19 Oct 2022

Cited by 7 | Viewed by 3413

Abstract

The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients’ genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype. Full article

(This article belongs to the Special Issue Epigenetic Regulation in Neurodegeneration Disease 2.0)

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