scholarly journals DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation

2020 ◽  
Vol 10 (3) ◽  
pp. 73
Author(s):  
Eva Sidlauskaite ◽  
Laura Le Gall ◽  
Virginie Mariot ◽  
Julie Dumonceaux
Keyword(s):  
Regulatory Proteins ◽  
Muscle Dysfunction ◽  
Epigenetic Alterations ◽  
Epigenetic Factors ◽  
Aberrant Expression ◽  
Mrna Regulation ◽  
Muscular Disease ◽  
The Face ◽  
Chromatin Relaxation ◽  
D4z4 Array

Facioscapulohumeral dystrophy (FSHD) is the most frequent muscular disease in adults. FSHD is characterized by a weakness and atrophy of a specific set of muscles located in the face, the shoulder, and the upper arms. FSHD patients may present different genetic defects, but they all present epigenetic alterations of the D4Z4 array located on the subtelomeric part of chromosome 4, leading to chromatin relaxation and, ultimately, to the aberrant expression of one gene called DUX4. Once expressed, DUX4 triggers a cascade of deleterious events, eventually leading to muscle dysfunction and cell death. Here, we review studies on DUX4 expression in skeletal muscle to determine the genetic/epigenetic factors and regulatory proteins governing DUX4 expression, with particular attention to the different transcripts and their very low expression in muscle.

scholarly journals Neuroblastoma and the epigenome

2021 ◽  
Author(s):  
Irfete S. Fetahu ◽  
Sabine Taschner-Mandl
Keyword(s):  
Dna Methylation ◽  
Histone Modifications ◽  
Disease Diagnosis ◽  
Dna Methyltransferases ◽  
Epigenetic Alterations ◽  
Aberrant Expression ◽  
Tet Proteins ◽  
Relative Paucity ◽  
Underlying Causes ◽  
Aberrant Dna Methylation

AbstractNeuroblastoma (NB) is a pediatric cancer of the sympathetic nervous system and one of the most common solid tumors in infancy. Amplification of MYCN, copy number alterations, numerical and segmental chromosomal aberrations, mutations, and rearrangements on a handful of genes, such as ALK, ATRX, TP53, RAS/MAPK pathway genes, and TERT, are attributed as underlying causes that give rise to NB. However, the heterogeneous nature of the disease—along with the relative paucity of recurrent somatic mutations—reinforces the need to understand the interplay of genetic factors and epigenetic alterations in the context of NB. Epigenetic mechanisms tightly control gene expression, embryogenesis, imprinting, chromosomal stability, and tumorigenesis, thereby playing a pivotal role in physio- and pathological settings. The main epigenetic alterations include aberrant DNA methylation, disrupted patterns of posttranslational histone modifications, alterations in chromatin composition and/or architecture, and aberrant expression of non-coding RNAs. DNA methylation and demethylation are mediated by DNA methyltransferases (DNMTs) and ten-eleven translocation (TET) proteins, respectively, while histone modifications are coordinated by histone acetyltransferases and deacetylases (HATs, HDACs), and histone methyltransferases and demethylases (HMTs, HDMs). This article focuses predominately on the crosstalk between the epigenome and NB, and the implications it has on disease diagnosis and treatment.

An Updated Review of the Cross-talk between MicroRNAs and Epigenetic Factors in Cancers

2021 ◽  
Vol 28 ◽  
Author(s):  
Narges Dastmalchi ◽  
Reza Safaralizadeh ◽  
Seyed Mahdi Banan Khojasteh ◽  
Mohammad Reza Sam ◽  
Saeid Latifi-Navid ◽  
...  
Keyword(s):  
Cross Talk ◽  
Transcriptional Networks ◽  
Epigenetic Factors ◽  
Aberrant Expression ◽  
Protein Coding ◽  
Cellular Processes ◽  
Concise Review ◽  
Ample Opportunity ◽  
Histone Modifiers ◽  
The Cross

Background: Growing evidence indicates that miRs have critical activities in adjusting cellular processes, e.g., cell death, proliferation, and cell-cycle. Introduction: This study aimed to provide a concise review of the recent findings regarding tumoral miRs and the cross-talk between miRs and epigenetic factors. Results: Like the protein-coding genes, the expression levels of miRs are mediated by various transcriptional networks. Indeed, the expression of miRs could be epigenetically modulated by DNA methylation factors and histone modifiers. Furthermore, miRs can suppress critical factors, which mediate epigenetic modifications. Besides, miRs have been implicated in cancer development, metastasis, and chemo-resistance. The aberrant expression of miRs and dysregulated modulatory circuits between miRs and epigenetic factors participate in tumor progression. Conclusion: Identifying tumoral miRs can provide ample opportunity to overcome chemo-resistance and bring a forefront treatment for affected patients.

scholarly journals Non-Coding RNAs as Mediators of Epigenetic Changes in Malignancies

Cancers ◽  
2020 ◽  
Vol 12 (12) ◽  
pp. 3657
Author(s):  
Subhasree Kumar ◽  
Edward A. Gonzalez ◽  
Pranela Rameshwar ◽  
Jean-Pierre Etchegaray
Keyword(s):  
Cellular Proliferation ◽  
Circular Rnas ◽  
Cancer Type ◽  
Epigenetic Alterations ◽  
Gene Expressions ◽  
Aberrant Expression ◽  
In Vivo Experiments ◽  
Non Coding Rnas

Non-coding RNAs (ncRNAs) are untranslated RNA molecules that regulate gene expressions. NcRNAs include small nuclear RNAs (snRNAs), small nucleolar RNAs (snoRNAs), ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), circular RNAs (cRNAs) and piwi-interacting RNAs (piRNAs). This review focuses on two types of ncRNAs: microRNAs (miRNAs) or short interfering RNAs (siRNAs) and long non-coding RNAs (lncRNAs). We highlight the mechanisms by which miRNAs and lncRNAs impact the epigenome in the context of cancer. Both miRNAs and lncRNAs have the ability to interact with numerous epigenetic modifiers and transcription factors to influence gene expression. The aberrant expression of these ncRNAs is associated with the development and progression of tumors. The primary reason for their deregulated expression can be attributed to epigenetic alterations. Epigenetic alterations can cause the misregulation of ncRNAs. The experimental evidence indicated that most abnormally expressed ncRNAs impact cellular proliferation and apoptotic pathways, and such changes are cancer-dependent. In vitro and in vivo experiments show that, depending on the cancer type, either the upregulation or downregulation of ncRNAs can prevent the proliferation and progression of cancer. Therefore, a better understanding on how ncRNAs impact tumorigenesis could serve to develop new therapeutic treatments. Here, we review the involvement of ncRNAs in cancer epigenetics and highlight their use in clinical therapy.

scholarly journals let-7 microRNAs: Their Role in Cerebral and Cardiovascular Diseases, Inflammation, Cancer, and Their Regulation

Biomedicines ◽  
2021 ◽  
Vol 9 (6) ◽  
pp. 606
Author(s):  
David L. Bernstein ◽  
Xinpei Jiang ◽  
Slava Rom
Keyword(s):  
Myocardial Infarction ◽  
Cardiovascular Diseases ◽  
Target Genes ◽  
Cardiac Fibrosis ◽  
Embryonic Stem ◽  
Regulatory Proteins ◽  
Research Progress ◽  
Aberrant Expression ◽  
Inflammatory Processes ◽  
Development And Differentiation

The let-7 family is among the first microRNAs found. Recent investigations have indicated that it is highly expressed in many systems, including cerebral and cardiovascular systems. Numerous studies have implicated the aberrant expression of let-7 members in cardiovascular diseases, such as stroke, myocardial infarction (MI), cardiac fibrosis, and atherosclerosis as well as in the inflammation related to these diseases. Furthermore, the let-7 microRNAs are involved in development and differentiation of embryonic stem cells in the cardiovascular system. Numerous genes have been identified as target genes of let-7, as well as a number of the let-7’ regulators. Further studies are necessary to identify the gene targets and signaling pathways of let-7 in cardiovascular diseases and inflammatory processes. The bulk of the let-7’ regulatory proteins are well studied in development, proliferation, differentiation, and cancer, but their roles in inflammation, cardiovascular diseases, and/or stroke are not well understood. Further knowledge on the regulation of let-7 is crucial for therapeutic advances. This review focuses on research progress regarding the roles of let-7 and their regulation in cerebral and cardiovascular diseases and associated inflammation.

scholarly journals Overview on Epigenetics and Cancer

2020 ◽  
Vol 2 (3) ◽  
pp. 01-06
Author(s):  
Eman Youness
Keyword(s):  
Metabolic Diseases ◽  
Chemical Processes ◽  
Epigenetic Alterations ◽  
Epigenetic Factors ◽  
Cancer Epigenetics ◽  
Expression Studies ◽  
Epigenetic Machinery ◽  
Non Coding Rnas ◽  
New Strategies ◽  
Genotype A

Epigenetics is considered as the science of hereditary phenotype which does not encompass amendment in the DNA. This occurs through chemical processes that modify the phenotype, without altering the genotype. A large number of studies showed that metabolic diseases are highly associated with epigenetic alterations suggesting that epigenetic factors may play a central role in cancer. Recent advancements in the rapidly evolving field of cancer epigenetics have shown extensive reprogramming of every component of the epigenetic machinery in cancer including DNA methylation, histone modifications, nucleosome positioning and non-coding RNAs, specifically microRNA expression. Studies of the mechanism(s) of epigenetic regulation and its reversibility have resulted in the identification of novel targets that may be useful in developing new strategies for the prevention and treatment of cancer.

Habilitating a Smile

Biofeedback ◽  
2012 ◽  
Vol 40 (2) ◽  
pp. 57-61 ◽  
Author(s):  
Jeffrey E. Bolek
Keyword(s):  
Case Report ◽  
Nerve Palsy ◽  
The Body ◽  
Limited Area ◽  
Muscle Dysfunction ◽  
Seventh Cranial Nerve ◽  
Increased Risk ◽  
Close Proximity ◽  
The Face ◽  
High Firing

The treatment of muscle dysfunction in the muscles around the face is particularly challenging. In addition to being the most observable muscles in the body, the limited area with which to work, the high firing rate, and the increased risk of picking up crosstalk from muscles in close proximity all add to the challenge. This case report describes the treatment of a young child with seventh cranial nerve palsy of the face.

scholarly journals Factors Influencing Epigenetic Mechanisms: Is There A Role for Bariatric Surgery?

2020 ◽  
Vol 9 (1) ◽  
pp. 6
Author(s):  
Alessio Metere ◽  
Claire E. Graves
Keyword(s):  
Gene Expression ◽  
Bariatric Surgery ◽  
Metabolic Diseases ◽  
Surgical Techniques ◽  
Epigenetic Mechanisms ◽  
Epigenetic Alterations ◽  
Epigenetic Factors ◽  
Post Translational Modifications ◽  
Development And Aging

Epigenetics is the interaction between the genome and environmental stimuli capable of influencing gene expression during development and aging. A large number of studies have shown that metabolic diseases are highly associated with epigenetic alterations, suggesting that epigenetic factors may play a central role in obesity. To investigate these relationships, we focus our attention on the most common epigenetic modifications that occur in obesity, including DNA methylation and post-translational modifications of histones. We also consider bariatric surgery as an epigenetic factor, evaluating how the anatomic and physiologic modifications induced by these surgical techniques can change gene expression. Here we discuss the importance of epigenetic mechanisms in chronic disease and cancer, and the role of epigenetic disturbances in obesity, with a focus on the role of bariatric surgery.

scholarly journals DNA Methylation-Governed Gene Expression in Autoimmune Arthritis

2019 ◽  
Vol 20 (22) ◽  
pp. 5646 ◽  
Author(s):  
Barbara Brandt ◽  
Shima Rashidiani ◽  
Ágnes Bán ◽  
Tibor A. Rauch
Keyword(s):  
Dna Methylation ◽  
Joint Destruction ◽  
Molecular Structures ◽  
New Drugs ◽  
Epigenetic Alterations ◽  
Epigenetic Factors ◽  
Biological Targets ◽  
Epigenetic Factor ◽  
Oral Pathogens ◽  
Inflammatory Autoimmune Disease

Rheumatoid arthritis (RA) is a chronic inflammatory autoimmune disease hallmarked by progressive and irreversible joint destruction. RA pathogenesis is a T cell-regulated and B cell-mediated process in which activated lymphocyte-produced chemokines and cytokines promote leukocyte infiltration that ultimately leads to destruction of the joints. There is an obvious need to discover new drugs for RA treatment that have different biological targets or modes of action than the currently employed therapeutics. Environmental factors such as cigarette smoke, certain diet components, and oral pathogens can significantly affect gene regulation via epigenetic factors. Epigenetics opened a new field for pharmacology, and DNA methylation and histone modification-implicated factors are feasible targets for RA therapy. Exploring RA pathogenesis involved epigenetic factors and mechanisms is crucial for developing more efficient RA therapies. Here we review epigenetic alterations associated with RA pathogenesis including DNA methylation and interacting factors. Additionally, we will summarize the literature revealing the involved molecular structures and interactions. Finally, potential epigenetic factor-based therapies will be discussed that may help in better management of RA in the future.

Sign in / Sign up

Export Citation Format

Share Document