Submit to Biology Review for Biology Propose a Special Issue

Journal Browser

► Journal Browser

Epigenetic Modifications and Changes in Neurodegenerative Diseases

Special Issue Editors
Special Issue Information
Keywords
Published Papers

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

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 8565

Share This Special Issue

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 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

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. Biology 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 2700 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
Parkinson’s disease
amyotrophic lateral sclerosis
epigenetics
DNA methylation
histone tail modifications
non-coding RNAs
biomarkers
environmental epigenetics

Published Papers (4 papers)

Download All Papers

Research

Jump to: Review

20 pages, 2612 KiB

Open AccessArticle

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 1420

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 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)

► Show Figures

Figure 1

Review

Jump to: Research

24 pages, 1926 KiB

Open AccessReview

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

Viewed by 1314

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 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)

► Show Figures

Figure 1

15 pages, 1073 KiB

Open AccessReview

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 2 | Viewed by 3533

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 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)

► Show Figures

Figure 1

24 pages, 858 KiB

Open AccessReview

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 3 | Viewed by 1759

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 (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)

► Show Figures