scholarly journals Single-suture craniosynostosis and the epigenome: current evidence and a review of epigenetic principles

2021 ◽  
Vol 50 (4) ◽  
pp. E10
Author(s):  
Othman Bin Alamer ◽  
Adrian E. Jimenez ◽  
Tej D. Azad
Keyword(s):  
Environmental Factors ◽  
Clinical Research ◽  
Surgical Management ◽  
Genetic Predisposition ◽  
Current Evidence ◽  
Epigenetic Mechanisms ◽  
Congenital Disease ◽  
Single Suture ◽  
Shed Light

Craniosynostosis (CS) is a congenital disease that arises due to premature ossification of single or multiple sutures, which results in skull deformities. The surgical management of single-suture CS continues to evolve and is driven by a robust body of clinical research; however, the molecular underpinnings of CS remain poorly understood. Despite long-standing hypotheses regarding the interaction of genetic predisposition and environmental factors, formal investigation of the epigenetic underpinnings of CS has been limited. In an effort to catalyze further investigation into the epigenetic basis of CS, the authors review the fundamentals of epigenetics, discuss recent studies that shed light on this emerging field, and offer hypotheses regarding the role of epigenetic mechanisms in the development of single-suture CS.

scholarly journals Epigenetic Approach to PTSD: In the Aspects of Rat Models

2021 ◽  
Author(s):  
Asli Aykac ◽  
Rasime Kalkan
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Animal Studies ◽  
Stress Disorder ◽  
Biological Response ◽  
Traumatic Experiences ◽  
Biochemical Processes ◽  
Life Threatening ◽  
Shed Light

AbstractPosttraumatic stress disorder (PTSD) is a stress-related mental disorder and develops after exposure to life-threatening traumatic experiences. The risk factors of PTSD included genetic factors; alterations in hypothalamic–pituitary–adrenal (HPA) axis; neurotrophic, serotonergic, dopaminergic, and catecholaminergic systems; and a variety of environmental factors, such as war, accident, natural disaster, pandemic, physical, or sexual abuse, that cause stress or trauma in individuals. To be able to understand the molecular background of PTSD, rodent animal models are widely used by researchers. When looking for a solution for PTSD, it is important to consider preexisting genetic risk factors and physiological, molecular, and biochemical processes caused by trauma that may cause susceptibility to this disorder. In studies, it is reported that epigenetic mechanisms play important roles in the biological response affected by environmental factors, as well as the task of programming cell identity. In this article, we provided an overview of the role of epigenetic modifications in understanding the biology of PTSD. We also summarized the data from animal studies and their importance during the investigation of PTSD. This study shed light on the epigenetic background of stress and PTSD.

scholarly journals Update on Myopia Risk Factors and Microenvironmental Changes

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Valeria Coviltir ◽  
Miruna Burcel ◽  
Alina Popa Cherecheanu ◽  
Catalina Ionescu ◽  
Dana Dascalescu ◽  
...  
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Signaling Pathways ◽  
Candidate Genes ◽  
Therapeutic Targets ◽  
Current Evidence ◽  
Complex Genetics ◽  
Recent Advances

The focus of this update is to emphasize the recent advances in the pathogenesis and various molecular key approaches associated with myopia in order to reveal new potential therapeutic targets. We review the current evidence for its complex genetics and evaluate the known or candidate genes and loci. In addition, we discuss recent investigations regarding the role of environmental factors. This paper also covers current research aimed at elucidating the signaling pathways involved in the pathogenesis of myopia.

Neutrophils in cystic fibrosis

2016 ◽  
Vol 397 (6) ◽  
pp. 485-496 ◽  
Author(s):  
Julie Laval ◽  
Anjali Ralhan ◽  
Dominik Hartl
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Structural Damage ◽  
Fungal Pathogens ◽  
Therapeutic Potential ◽  
Inflammatory Cells ◽  
Current Evidence ◽  
Infection And Inflammation ◽  
Shed Light

Abstract Cystic fibrosis (CF) lung disease is characterized by chronic infection and inflammation. Among inflammatory cells, neutrophils represent the major cell population accumulating in the airways of CF patients. While neutrophils provide the first defensive cellular shield against bacterial and fungal pathogens, in chronic disease conditions such as CF these short-lived immune cells release their toxic granule contents that cause tissue remodeling and irreversible structural damage to the host. A variety of human and murine studies have analyzed neutrophils and their products in the context of CF, yet their precise functional role and therapeutic potential remain controversial and incompletely understood. Here, we summarize the current evidence in this field to shed light on the complex and multi-faceted role of neutrophils in CF lung disease.

scholarly journals Current evidence for a role of epigenetic mechanisms in response to ionizing radiation in an ecotoxicological context

2019 ◽  
Vol 251 ◽  
pp. 469-483 ◽  
Author(s):  
Nele Horemans ◽  
David J. Spurgeon ◽  
Catherine Lecomte-Pradines ◽  
Eline Saenen ◽  
Clare Bradshaw ◽  
...  
Keyword(s):  
Ionizing Radiation ◽  
Current Evidence ◽  
Epigenetic Mechanisms

scholarly journals Dietary Habits Bursting into the Complex Pathogenesis of Autoimmune Diseases: The Emerging Role of Salt from Experimental and Clinical Studies

Nutrients ◽  
2019 ◽  
Vol 11 (5) ◽  
pp. 1013 ◽  
Author(s):  
Rossana Scrivo ◽  
Carlo Perricone ◽  
Alessio Altobelli ◽  
Chiara Castellani ◽  
Lorenzo Tinti ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Autoimmune Diseases ◽  
Lupus Erythematosus ◽  
Clinical Studies ◽  
Dietary Habits ◽  
Salt Intake ◽  
Experimental Models ◽  
Fine Tuning ◽  
Current Evidence

The incidence and prevalence of autoimmune diseases have increased in Western countries over the last years. The pathogenesis of these disorders is multifactorial, with a combination of genetic and environmental factors involved. Since the epidemiological changes cannot be related to genetic background, which did not change significantly in that time, the role of environmental factors has been reconsidered. Among these, dietary habits, and especially an excessive salt, typical of processed foods, has been implicated in the development of autoimmune diseases. In this review, we summarize current evidence, deriving both from experimental models and clinical studies, on the capability of excessive salt intake to exacerbate proinflammatory responses affecting the pathogenesis of immune-mediated diseases. Data on several diseases are presented, including rheumatoid arthritis, systemic lupus erythematosus, multiple sclerosis, and Crohn’s disease, with many of them supporting a proinflammatory effect of salt. Likewise, a hypertonic microenvironment showed similar effects in experimental models both in vivo and in vitro. However, murine models of spontaneous autoimmune polyneuropathy exposed to high salt diet suggest opposite outcomes. These results dictate the need to further analyse the role of cooking salt in the treatment and prevention of autoimmune diseases, trying to shape a fine tuning between the possible advantages of a restricted salt intake and the changes in circulating metabolites, mediators, and hormones which come along salt consumption and could in turn influence autoimmunity.

scholarly journals The Possible Role of Epigenetics in Gestational Diabetes: Cause, Consequence, or Both

2010 ◽  
Vol 2010 ◽  
pp. 1-7 ◽  
Author(s):  
J. L. Fernández-Morera ◽  
S. Rodríguez-Rodero ◽  
E. Menéndez-Torre ◽  
M. F. Fraga
Keyword(s):  
Diabetes Mellitus ◽  
Risk Factors ◽  
Environmental Factors ◽  
Gestational Diabetes ◽  
Gestational Diabetes Mellitus ◽  
Epigenetic Regulation ◽  
Negative Impact ◽  
Epigenetic Mechanisms ◽  
Intrauterine Environment

Gestational diabetes mellitus (GDM) is defined as the glucose intolerance that is not present or recognized prior to pregnancy. Several risk factors of GDM depend on environmental factors that are thought to regulate the genome through epigenetic mechanisms. Thus, epigenetic regulation could be involved in the development of GDM. In addition, the adverse intrauterine environment in patients with GDM could also have a negative impact on the establishment of the epigenomes of the offspring.

Role of genetic and environmental factors in the development of polycystic ovary syndrome

2013 ◽  
Vol 154 (17) ◽  
pp. 650-657
Author(s):  
László Ságodi ◽  
Emőke Kiss-Tóth ◽  
László Barkai
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Reproductive Age ◽  
Current Evidence ◽  
Ovary Syndrome ◽  
Genetic And Environmental Factors ◽  
Endocrine Abnormality ◽  
Ovarian Syndrome

Polycystic ovary syndrome is the most common heterogeneous endocrine abnormality in women in the reproductive age. The syndrome remains an enigmatic disorder because the aetiology is still unclear. Familial aggreagation is relatively common among patients with polycystic ovary syndrome suggesting a significant genetic component, although the way of inheritance has not been established firmly. The authors review the relevant medical literature and suggest that genetic and environmental factors play a role in the development of polycystic ovary syndrome. To date, no gene has been identified that causes or contributes substantially to the development of a polycystic ovary syndrome phenotype. Polycystic ovarian syndrome is considered to be an oligogenic disorder in which the interaction of a number of genetic and environmental factors determines the heterogeneous clinical and biochemical phenotype. To summarize current evidence the authors conclude, that when we are able to identify and then modify environmental determinants, then we will be able to safeguard better the health of those patients who are predisposed to disease development due to genotype or previous environmental effects. Orv. Hetil., 2013, 154, 650–657.

scholarly journals Emerging Role of microRNAs and Long Non-Coding RNAs in Sjögren’s Syndrome

Genes ◽  
2021 ◽  
Vol 12 (6) ◽  
pp. 903
Author(s):  
Giada De Benedittis ◽  
Cinzia Ciccacci ◽  
Andrea Latini ◽  
Lucia Novelli ◽  
Giuseppe Novelli ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Sjögren’S Syndrome ◽  
Genetic Predisposition ◽  
Sjögren's Syndrome ◽  
Critical Role ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Non Coding Rnas ◽  
Sjögren‘S Syndrome

Sjögren’s Syndrome (SS) is a chronic autoimmune inflammatory disease. It is considered a multifactorial pathology, in which underlying genetic predisposition, epigenetic mechanisms and environmental factors contribute to development. The epigenetic regulations represent a link between genetic predisposition and environmental factors. Recent studies suggested a regulatory role for non-coding RNAs in critical biological and disease processes. Among non-coding RNAs, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs) play a critical role in the post-transcriptional mRNA expression, forming a complex network of gene expression regulation. This review aims to give an overview of the latest studies that have investigated the role of miRNAs and lncRNAs in the SS. We included papers that investigated the expression of non-coding RNAs on different tissues, in particular on peripheral blood mononuclear cells and salivary glands. However, regarding the involvement of non-coding RNAs genetic variability in SS susceptibility very few data are available. Further research could help to elucidate underlying pathogenic processes of SS and provide new opportunities for the development of targeted therapies.

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