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Epigenetic Modifications and Changes in Neurodegenerative Diseases
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Epigenetic Modifications and Changes in Neurodegenerative Diseases

A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Neuroscience".

Deadline for manuscript submissions: closed (30 November 2024) | Viewed by 27159

Special Issue Editor

Dr. Andrea Stoccoro

E-Mail Website
Guest Editor
Medical Genetics Laboratories, Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, 56126 Pisa, Italy
Interests: neurobiology; neurodegeneration; epigenetic biomarkers; environmental factors
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The global prevalence of neurodegenerative diseases (NDs) is dramatically increasing worldwide and the identification of valuable biomarkers for an early diagnosis is of outmost importance as it would promote early interventions to prevent or delay as much as possible the onset of the disease. Multiple lines of evidence suggest that epigenetic mechanisms play a pivotal role in the pathogenesis of these disorders, including Alzheimer’s disease and Parkinson’s disease. Indeed, aberrant DNA methylation, altered histone tail modifications, and expression of non-coding RNAs were observed in brain tissues of NDs patients, and studies performed in peripheral blood have yielded encouraging results in the search for peripheral biomarkers. Moreover, given the dynamic nature of the epigenetic marks, intense research is carried out to investigate the therapeutic efficacy of compounds exerting epigenetic properties. This Special Issue aims to provide an updated overview of the epigenetics of NDs and the potential applicability of epigenetic therapy. Basic research articles aimed to identify altered epigenetic mechanisms underlying these disorders, research papers dealing with the potential of therapeutic approaches targeting epigenome, as well as articles addressing the contribution of environmental or early life factors to epigenetic changes are welcome. Updated reviews and systematic reviews on a specific theme are also invited to be submitted.

I look forward to receiving your contributions.

Dr. Andrea Stoccoro
Guest Editor

Manuscript Submission Information

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Keywords

  • Alzheimer’s disease
  • Parkinson’s disease
  • amyotrophic lateral sclerosis
  • epigenetics
  • DNA methylation
  • histone tail modifications
  • non-coding RNAs
  • biomarkers
  • environmental epigenetics
 

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Published Papers (7 papers)

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Research

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20 pages, 2612 KiB  
Article
Influence of Metabolic, Transporter, and Pathogenic Genes on Pharmacogenetics and DNA Methylation in Neurological Disorders
by Olaia Martínez-Iglesias, Vinogran Naidoo, Iván Carrera, Juan Carlos Carril, Natalia Cacabelos and Ramón Cacabelos
Biology 2023, 12(9), 1156; https://doi.org/10.3390/biology12091156 - 22 Aug 2023
Cited by 2 | Viewed by 2543
Abstract
Pharmacogenetics and DNA methylation influence therapeutic outcomes and provide insights into potential therapeutic targets for brain-related disorders. To understand the effect of genetic polymorphisms on drug response and disease risk, we analyzed the relationship between global DNA methylation, drug-metabolizing enzymes, transport genes, and [...] Read more.
Pharmacogenetics and DNA methylation influence therapeutic outcomes and provide insights into potential therapeutic targets for brain-related disorders. To understand the effect of genetic polymorphisms on drug response and disease risk, we analyzed the relationship between global DNA methylation, drug-metabolizing enzymes, transport genes, and pathogenic gene phenotypes in serum samples from two groups of patients: Group A, which showed increased 5-methylcytosine (5mC) levels during clinical follow-up, and Group B, which exhibited no discernible change in 5mC levels. We identified specific SNPs in several metabolizing genes, including CYP1A2, CYP2C9, CYP4F2, GSTP1, and NAT2, that were associated with differential drug responses. Specific SNPs in CYP had a significant impact on enzyme activity, leading to changes in phenotypic distribution between the two patient groups. Group B, which contained a lower frequency of normal metabolizers and a higher frequency of ultra-rapid metabolizers compared to patients in Group A, did not show an improvement in 5mC levels during follow-up. Furthermore, there were significant differences in phenotype distribution between patient Groups A and B for several SNPs associated with transporter genes (ABCB1, ABCC2, SLC2A9, SLC39A8, and SLCO1B1) and pathogenic genes (APOE, NBEA, and PTGS2). These findings appear to suggest that the interplay between pharmacogenomics and DNA methylation has important implications for improving treatment outcomes in patients with brain-related disorders. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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Review

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26 pages, 1360 KiB  
Review
Epigenetic Mechanisms Underlying Sex Differences in Neurodegenerative Diseases
by Andrea Stoccoro
Biology 2025, 14(1), 98; https://doi.org/10.3390/biology14010098 - 19 Jan 2025
Cited by 1 | Viewed by 1179
Abstract
Neurodegenerative diseases are characterized by profound differences between females and males in terms of incidence, clinical presentation, and disease progression. Furthermore, there is evidence suggesting that differences in sensitivity to medical treatments may exist between the two sexes. Although the role of sex [...] Read more.
Neurodegenerative diseases are characterized by profound differences between females and males in terms of incidence, clinical presentation, and disease progression. Furthermore, there is evidence suggesting that differences in sensitivity to medical treatments may exist between the two sexes. Although the role of sex hormones and sex chromosomes in driving differential susceptibility to these diseases is well-established, the molecular alterations underlying these differences remain poorly understood. Epigenetic mechanisms, including DNA methylation, histone tail modifications, and the activity of non-coding RNAs, are strongly implicated in the pathogenesis of neurodegenerative diseases. While it is known that epigenetic mechanisms play a crucial role in sexual differentiation and that distinct epigenetic patterns characterize females and males, sex-specific epigenetic patterns have been largely overlooked in studies aiming to identify epigenetic alterations associated with neurodegenerative diseases. This review aims to provide an overview of sex differences in epigenetic mechanisms, the role of sex-specific epigenetic processes in the central nervous system, and the main evidence of sex-specific epigenetic alterations in three neurodegenerative diseases, including Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis. Understanding the sex-related differences of these diseases is essential for developing personalized treatments and interventions that account for the unique epigenetic landscapes of each sex. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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25 pages, 3309 KiB  
Review
Epigenetic Modifiers: Exploring the Roles of Histone Methyltransferases and Demethylases in Cancer and Neurodegeneration
by Lauren Reed, Janak Abraham, Shay Patel and Shilpa S. Dhar
Biology 2024, 13(12), 1008; https://doi.org/10.3390/biology13121008 - 3 Dec 2024
Viewed by 1591
Abstract
Histone methyltransferases (HMTs) and histone demethylases (HDMs) are critical enzymes that regulate chromatin dynamics and gene expression through the addition and removal of methyl groups on histone proteins. HMTs, such as PRC2 and SETD2, are involved in the trimethylation of histone H3 at [...] Read more.
Histone methyltransferases (HMTs) and histone demethylases (HDMs) are critical enzymes that regulate chromatin dynamics and gene expression through the addition and removal of methyl groups on histone proteins. HMTs, such as PRC2 and SETD2, are involved in the trimethylation of histone H3 at lysine 27 and lysine 36, influencing gene silencing and activation. Dysregulation of these enzymes often leads to abnormal gene expression and contributes to tumorigenesis. In contrast, HDMs including KDM7A and KDM2A reverse these methylation marks, and their dysfunction can drive disease progression. In cancer, the aberrant activity of specific HMTs and HDMs can lead to the silencing of tumor suppressor genes or the activation of oncogenes, facilitating tumor progression and resistance to therapy. Conversely, in neurodegenerative diseases, such as Alzheimer’s disease (AD), Parkinson’s disease (PD), and Huntington’s disease (HD), disruptions in histone methylation dynamics are associated with neuronal loss, altered gene expression, and disease progression. We aimed to comprehend the odd activity of HMTs and HDMs and how they contribute to disease pathogenesis, highlighting their potential as therapeutic targets. By advancing our understanding of these epigenetic regulators, this review provides new insights into their roles in cancer and neurodegenerative diseases, offering a foundation for future research. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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27 pages, 2291 KiB  
Review
Deciphering Depression: Epigenetic Mechanisms and Treatment Strategies
by Alaa A. A. Aljabali, Almuthanna K. Alkaraki, Omar Gammoh, Murtaza M. Tambuwala, Vijay Mishra, Yachana Mishra, Sk. Sarif Hassan and Mohamed El-Tanani
Biology 2024, 13(8), 638; https://doi.org/10.3390/biology13080638 - 20 Aug 2024
Cited by 5 | Viewed by 6133
Abstract
Depression, a significant mental health disorder, is under intense research scrutiny to uncover its molecular foundations. Epigenetics, which focuses on controlling gene expression without altering DNA sequences, offers promising avenues for innovative treatment. This review explores the pivotal role of epigenetics in depression, [...] Read more.
Depression, a significant mental health disorder, is under intense research scrutiny to uncover its molecular foundations. Epigenetics, which focuses on controlling gene expression without altering DNA sequences, offers promising avenues for innovative treatment. This review explores the pivotal role of epigenetics in depression, emphasizing two key aspects: (I) identifying epigenetic targets for new antidepressants and (II) using personalized medicine based on distinct epigenetic profiles, highlighting potential epigenetic focal points such as DNA methylation, histone structure alterations, and non-coding RNA molecules such as miRNAs. Variations in DNA methylation in individuals with depression provide opportunities to target genes that are associated with neuroplasticity and synaptic activity. Aberrant histone acetylation may indicate that antidepressant strategies involve enzyme modifications. Modulating miRNA levels can reshape depression-linked gene expression. The second section discusses personalized medicine based on epigenetic profiles. Analyzing these patterns could identify biomarkers associated with treatment response and susceptibility to depression, facilitating tailored treatments and proactive mental health care. Addressing ethical concerns regarding epigenetic information, such as privacy and stigmatization, is crucial in understanding the biological basis of depression. Therefore, researchers must consider these issues when examining the role of epigenetics in mental health disorders. The importance of epigenetics in depression is a critical aspect of modern medical research. These findings hold great potential for novel antidepressant medications and personalized treatments, which would significantly improve patient outcomes, and transform psychiatry. As research progresses, it is expected to uncover more complex aspects of epigenetic processes associated with depression, enhance our comprehension, and increase the effectiveness of therapies. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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23 pages, 1926 KiB  
Review
Epigenetic Alterations in Alzheimer’s Disease: Impact on Insulin Signaling and Advanced Drug Delivery Systems
by Alosh Greeny, Ayushi Nair, Prashant Sadanandan, Sairaj Satarker, Ademola C. Famurewa and Madhavan Nampoothiri
Biology 2024, 13(3), 157; https://doi.org/10.3390/biology13030157 - 28 Feb 2024
Cited by 1 | Viewed by 3214
Abstract
Alzheimer’s disease (AD) is a neurodegenerative condition that predominantly affects the hippocampus and the entorhinal complex, leading to memory lapse and cognitive impairment. This can have a negative impact on an individual’s behavior, speech, and ability to navigate their surroundings. AD is one [...] Read more.
Alzheimer’s disease (AD) is a neurodegenerative condition that predominantly affects the hippocampus and the entorhinal complex, leading to memory lapse and cognitive impairment. This can have a negative impact on an individual’s behavior, speech, and ability to navigate their surroundings. AD is one of the principal causes of dementia. One of the most accepted theories in AD, the amyloid β (Aβ) hypothesis, assumes that the buildup of the peptide Aβ is the root cause of AD. Impaired insulin signaling in the periphery and central nervous system has been considered to have an effect on the pathophysiology of AD. Further, researchers have shifted their focus to epigenetic mechanisms that are responsible for dysregulating major biochemical pathways and intracellular signaling processes responsible for directly or indirectly causing AD. The prime epigenetic mechanisms encompass DNA methylation, histone modifications, and non-coding RNA, and are majorly responsible for impairing insulin signaling both centrally and peripherally, thus leading to AD. In this review, we provide insights into the major epigenetic mechanisms involved in causing AD, such as DNA methylation and histone deacetylation. We decipher how the mechanisms alter peripheral insulin signaling and brain insulin signaling, leading to AD pathophysiology. In addition, this review also discusses the need for newer drug delivery systems for the targeted delivery of epigenetic drugs and explores targeted drug delivery systems such as nanoparticles, vesicular systems, networks, and other nano formulations in AD. Further, this review also sheds light on the future approaches used for epigenetic drug delivery. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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15 pages, 1073 KiB  
Review
The Impact of Apolipoprotein E (APOE) Epigenetics on Aging and Sporadic Alzheimer’s Disease
by Madia Lozupone, Vittorio Dibello, Rodolfo Sardone, Fabio Castellana, Roberta Zupo, Luisa Lampignano, Ilaria Bortone, Antonio Daniele, Antonello Bellomo, Vincenzo Solfrizzi and Francesco Panza
Biology 2023, 12(12), 1529; https://doi.org/10.3390/biology12121529 - 15 Dec 2023
Cited by 12 | Viewed by 7848
Abstract
Sporadic Alzheimer’s disease (AD) derives from an interplay among environmental factors and genetic variants, while epigenetic modifications have been expected to affect the onset and progression of its complex etiopathology. Carriers of one copy of the apolipoprotein E gene (APOE) ε4 [...] Read more.
Sporadic Alzheimer’s disease (AD) derives from an interplay among environmental factors and genetic variants, while epigenetic modifications have been expected to affect the onset and progression of its complex etiopathology. Carriers of one copy of the apolipoprotein E gene (APOE) ε4 allele have a 4-fold increased AD risk, while APOE ε4/ε4-carriers have a 12-fold increased risk of developing AD in comparison with the APOE ε3-carriers. The main longevity factor is the homozygous APOE ε3/ε3 genotype. In the present narrative review article, we summarized and described the role of APOE epigenetics in aging and AD pathophysiology. It is not fully understood how APOE variants may increase or decrease AD risk, but this gene may affect tau- and amyloid-mediated neurodegeneration directly or indirectly, also by affecting lipid metabolism and inflammation. For sporadic AD, epigenetic regulatory mechanisms may control and influence APOE expression in response to external insults. Diet, a major environmental factor, has been significantly associated with physical exercise, cognitive function, and the methylation level of several cytosine-phosphate-guanine (CpG) dinucleotide sites of APOE. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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24 pages, 858 KiB  
Review
Functional Implications of Protein Arginine Methyltransferases (PRMTs) in Neurodegenerative Diseases
by Efthalia Angelopoulou, Efstratios-Stylianos Pyrgelis, Chetana Ahire, Prachi Suman, Awanish Mishra and Christina Piperi
Biology 2023, 12(9), 1257; https://doi.org/10.3390/biology12091257 - 20 Sep 2023
Cited by 5 | Viewed by 3429
Abstract
During the aging of the global population, the prevalence of neurodegenerative diseases will be continuously growing. Although each disorder is characterized by disease-specific protein accumulations, several common pathophysiological mechanisms encompassing both genetic and environmental factors have been detected. Among them, protein arginine methyltransferases [...] Read more.
During the aging of the global population, the prevalence of neurodegenerative diseases will be continuously growing. Although each disorder is characterized by disease-specific protein accumulations, several common pathophysiological mechanisms encompassing both genetic and environmental factors have been detected. Among them, protein arginine methyltransferases (PRMTs), which catalyze the methylation of arginine of various substrates, have been revealed to regulate several cellular mechanisms, including neuronal cell survival and excitability, axonal transport, synaptic maturation, and myelination. Emerging evidence highlights their critical involvement in the pathophysiology of neurodegenerative diseases, including Alzheimer’s disease (AD), Parkinson’s disease (PD), frontotemporal dementia–amyotrophic lateral sclerosis (FTD-ALS) spectrum, Huntington’s disease (HD), spinal muscular atrophy (SMA) and spinal and bulbar muscular atrophy (SBMA). Underlying mechanisms include the regulation of gene transcription and RNA splicing, as well as their implication in various signaling pathways related to oxidative stress responses, apoptosis, neuroinflammation, vacuole degeneration, abnormal protein accumulation and neurotransmission. The targeting of PRMTs is a therapeutic approach initially developed against various forms of cancer but currently presents a novel potential strategy for neurodegenerative diseases. In this review, we discuss the accumulating evidence on the role of PRMTs in the pathophysiology of neurodegenerative diseases, enlightening their pathogenesis and stimulating future research. Full article
(This article belongs to the Special Issue Epigenetic Modifications and Changes in Neurodegenerative Diseases)
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