Global Trends in Atherosclerosis Research in the Epigenetics Field: Bibliometric and Visualization Studies

Atherosclerosis is a pathological vascular state caused by the interaction of environmental and hereditary factors. Epigenetic modifications may be the bridge connecting environmental factors and genetic factors. A search for publications on the Web of Science database in the field of atherosclerosis related to epigenetics was conducted from the earliest mention to December 31, 2020. Data on total and annual publications, citations, impact factors, Hirsch (H)-index, citation times, most prolific authors, and frequently published journals were collected for quantitative and qualitative comparison. A total of 1848 publications related to epigenetics and atherosclerosis were found. The major contributing countries were the China (522, 28.23%), United States (485, 26.23%), and Germany (119, 6.44%). The greatest number of retrieved publications were published in the journal, “Arteriosclerosis, Thrombosis, and Vascular Biology” (62, 3.66%). The publication “Oxidative Stress and Diabetic Complications” was cited 2370 times. The most frequent keywords were “DNA methylation” and “LncRNA”. Publications on epigenetic research in the atherosclerosis field have increased significantly every year, indicating that the study of epigenetic modifications plays an increasingly important role in understanding the pathology of atherosclerosis.

Revealing the biological basis of mental illness: epigenetic research as a new direction in diagnosis and treatment

Summary. Mental disorders are clinically heterogeneous chronic diseases resulting from complex interactions between genotype variants and environmental factors. Epigenetic processes, such as DNA methylation and post-translational histone modification, determine the interpretation by the body at the cellular and tissue levels of various environmental factors. Given that epigenetic modifications are environmentally sensitive, stable and reversible, epigenetic research in psychiatry may be a promising approach to better understanding and treating mental illness. This review discusses the clinical opportunities and challenges posed by epigenetic research in psychiatry. Using individual examples, the main conclusions are drawn that confirm the role of adverse life events, alone or in combination with genetic risk, in the epigenetic programming of neuropsychiatric systems. Further epigenetic studies show encouraging results in the use of methylation changes as diagnostic markers of disease manifestations and provide predictive tools for assessing progression and response to treatment. The potential for the use of targeted epigenetic pharmacotherapy, combined with psychosocial methods, in the context of the personalized medicine of the future in psychiatry is discussed next. It concludes with a discussion of methodological limitations that can make it difficult to interpret epigenetic data in psychiatry. They mainly arise due to the heterogeneity of individuals, both at the level of the whole organism and at the level of tissues, and require new strategies to better assess the biological significance of epigenetic data and their translational use in psychiatry. Overall, we believe that epigenetics can provide new insights and a more comprehensive understanding of the etiology and pathogenesis of mental illness, and should ultimately improve the nosology, treatment and prevention of mental disorders.

Exploring the Epigenome in Gastroenteropancreatic Neuroendocrine Neoplasias

Gastroenteropancreatic neuroendocrine neoplasias are a diverse group of neoplasms with different characteristics in terms of site, biological behaviour and metastatic potential. In comparison to other cancers, they are genetically quiet, harbouring relatively few somatic mutations. It is increasingly becoming evident that epigenetic changes are as relevant, if not more so, as somatic mutations in promoting oncogenesis. Despite significant tumour heterogeneity, it is obvious that DNA methylation, histone and chromatin modifications and microRNA expression profiles are distinctive for GEP-NEN subtypes and may correlate with clinical outcome. This review summarises existing knowledge on epigenetic changes, identifying potential contributions to pathogenesis and oncogenesis. In particular, we focus on epigenetic changes pertaining to well-differentiated neuroendocrine tumours, which make up the bulk of NENs. We also highlight both similarities and differences within the subtypes of GEP-NETs and how these relate and compare to other types of cancers. We relate epigenetic understanding to existing treatments and explore how this knowledge may be exploited in the development of novel treatment approaches, such as in theranostics and combining conventional treatment modalities. We consider potential barriers to epigenetic research in GEP-NENs and discuss strategies to optimise research and development of new therapies.

Fit in your genes: an introduction to genes and epigenetics for forensic practitioners

Purpose This paper aims to provide a brief and accessible introduction to genetics and epigenetics for forensic practitioners. It provides two primers which define key genetic concepts and explain what epigenetic mechanisms actually are. The primers are provided alongside sections that focus on genetic research relevant to forensic practice, with a range of key messages that support the call to contextualise harmful behaviour and build better awareness of gene-environment relationships. Design/methodology/approach This is an opinion paper. Findings Select and seminal studies from the genetic literature that have forensic practice relevance are cited. These include studies from candidate gene research and epigenetic research. They highlight a number of key themes, including the way neurodevelopment and behaviour are contextually adjusted to fit certain environments, with epigenetic changes being an underpinning biological mechanism that facilitates this. Research limitations/implications This article aims to introduce forensic practitioners to basic concepts in genetics and epigenetics so that they are able to engage with the relevant literature and understand the far-reaching implications for forensic practice. Practical implications It is becoming increasingly useful for forensic practitioners to appreciate how life experiences are encoded into biology through epigenetics. This paper highlights the potential of genetic and epigenetic research to provide major contributions to real-world practice in the coming years. It provides a modern biopsychosocial perspective on harmful behaviour and helps deepen the understanding of our efforts to support behaviour change. It offers ways to think of social and rehabilitative initiatives in biological terms. Originality/value This paper is one of few modern texts that focusses on the relevance of genetic and epigenetic research in applied forensic practice. It aims to introduce relevant concepts in an accessible manor. It intends to introduce biologically informed ways of understanding harmful behaviour within context and with attention to its function. It contributes to a de-pathologising narrative.

Characterization of BisI Homologs

BisI is a sequence-specific and 5-methylcytosine (m5C)-dependent restriction endonuclease (REase), that cleaves the modified DNA sequence Gm5CNGC (G indicates that the cytosine opposite to G is modified). We expressed and purified a number of BisI homologs from sequenced bacterial genomes and used Illumina sequencing to determine the Pam7902I (Esp638I-like) cleavage sites in phage Xp12 DNA. One BisI homolog KpnW2I is EcoBLMcrX-like, cleaving GCNGC/RCNGY/RCNRC sites with m5C. We also cloned and expressed three BisI homologs from metagenome sequences derived from thermophilic sources. One enzyme EsaTMI is active at 37 to 65°C. EsaHLI cleaves GCNGC sites with three to four m5C and is active up to 50°C. In addition, we determined the number and position of m5C in BisI sites for efficient cleavage. BisI cleavage efficiency of GCNGC site is as following: Gm5CNGC (two internal m5C) > Gm5CNGC (one internal m5C) > GCNGm5C (one external m5C) > > GCNGC (unmodified). Three or four m5C in GCNGC site also supports BisI cleavage although partial inhibition was observed on duplex oligos with four m5C. BisI can be used to partially cleave a desired GCNGC site targeted with a complementary oligonucleotide (hemi-methylated). The m5C-dependent BisI variants will be useful for epigenetic research.

Conducting epigenetics research with refugees and asylum seekers: attending to the ethical challenges

An increase in global violence has forced the displacement of more than 70 million people, including 26 million refugees and 3.5 asylum seekers. Refugees and asylum seekers face serious socioeconomic and healthcare barriers and are therefore particularly vulnerable to physical and mental health risks, which are sometimes exacerbated by immigration policies and local social discriminations. Calls for a strong evidence base for humanitarian action have encouraged conducting research to address the barriers and needs of refugees and asylum seekers. Given the role of epigenetics factors to mediate the effect of psychological and environmental exposures, epigenetic modifications have been used as biomarkers for life adversity and disease states. Therefore, epigenetic research can be potentially beneficial to address some of the issues associated with refugees and asylum seekers. Here, we review the value of previous and ongoing epigenetic studies with traumatized populations, explore some of the ethical challenges associated with epigenetic research with refugees and asylees and offer suggestions to address or mitigate some of these challenges. Researchers have an ethical responsibility to implement strategies to minimize the harms and maximize the short and long-term benefits to refugee and asylee participants.

“Mombrain and Sticky DNA”: The Impacts of Neurobiological and Epigenetic Framings of Motherhood on Women's Subjectivities

The fields of epigenetics and neuroscience have come to occupy a significant place in individual and public life in biomedicalized societies. Social scientists have argued that the primacy and popularization of the “neuro” has begun to shape how patients and other lay people experience themselves and their lifeworlds in increasingly neurological and genetic terms. Pregnant women and new mothers have become an important new target for cutting edge neuroscientific and epigenetic research, with the Internet constituting a highly active space for engagement with knowledge translations. In this paper, we analyze the reception by women in North America of translations of nascent epigenetic and neuroscientific research. We conducted three focus groups with pregnant women and new mothers. The study was informed by a prior scoping investigation of online content. Our focus group findings record how engagement with translations of epigenetic and neuroscientific research impact women's perinatal experience, wellbeing, and self-construal. Three themes emerged in our analysis: (1) A kind of brain; (2) The looping effects of biomedical narratives; (3) Imprints of past experience and the management of the future. This data reveals how mothers engage with the neurobiological style-of-thought increasingly characteristic of public health and popular science messaging around pregnancy and motherhood. Through the molecularization of pregnancy and child development, a typical passage of life becomes saturated with “susceptibility,” “risk,” and the imperative to preemptively make “healthy' choices.” This, in turn, redefines and shapes the experience of what it is to be a “good,” “healthy,” or “responsible” mother/to-be.

Cannabis-Induced Hypodopaminergic Anhedonia and Cognitive Decline in Humans: Embracing Putative Induction of Dopamine Homeostasis

Over years, the regular use of cannabis has substantially increased among young adults, as indicated by the rise in cannabis use disorder (CUD), with an estimated prevalence of 8. 3% in the United States. Research shows that exposure to cannabis is associated with hypodopaminergic anhedonia (depression), cognitive decline, poor memory, inattention, impaired learning performance, reduced dopamine brain response-associated emotionality, and increased addiction severity in young adults. The addiction medicine community is increasing concern because of the high content of delta-9-tetrahydrocannabinol (THC) currently found in oral and vaping cannabis products, the cognitive effects of cannabis may become more pronounced in young adults who use these cannabis products. Preliminary research suggests that it is possible to induce 'dopamine homeostasis,' that is, restore dopamine function with dopamine upregulation with the proposed compound and normalize behavior in chronic cannabis users with cannabis-induced hypodopaminergic anhedonia (depression) and cognitive decline. This psychological, neurobiological, anatomical, genetic, and epigenetic research also could provide evidence to use for the development of an appropriate policy regarding the decriminalization of cannabis for recreational use.

Clinical epigenetics settings for cancer and cardiovascular diseases: real-life applications of network medicine at the bedside

Despite impressive efforts invested in epigenetic research in the last 50 years, clinical applications are still lacking. Only a few university hospital centers currently use epigenetic biomarkers at the bedside. Moreover, the overall concept of precision medicine is not widely recognized in routine medical practice and the reductionist approach remains predominant in treating patients affected by major diseases such as cancer and cardiovascular diseases. By its’ very nature, epigenetics is integrative of genetic networks. The study of epigenetic biomarkers has led to the identification of numerous drugs with an increasingly significant role in clinical therapy especially of cancer patients. Here, we provide an overview of clinical epigenetics within the context of network analysis. We illustrate achievements to date and discuss how we can move from traditional medicine into the era of network medicine (NM), where pathway-informed molecular diagnostics will allow treatment selection following the paradigm of precision medicine.