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During the perinatal period, women may be more susceptible to depressive symptoms because of fluctuating oestrogen levels. Genetic variations, epigenetic modifications and varying gene expression levels of oestrogen receptor genes may contribute to inter-individual differences in the encoded receptors’ sensitivity to oestrogen, ultimately modulating the susceptibility to depressive symptoms.
Aims
The aim of this systematic review was to provide an overview of the literature on the association between oestrogen receptor genes and perinatal depression symptoms by including genetic, epigenetic and gene expression studies.
Method
A systematic search of three public databases, PubMed, PsycINFO and Web of Science, was conducted in accordance with the PRISMA guidelines (PROSPERO registration number: CRD42023447446). Two independent reviewers extracted data and assessed study quality.
Results
A total of 29 studies were finally included, of which 16 investigated genetic variants, five investigated epigenetic modifications and eight investigated gene expression levels of oestrogen receptor genes. A limited number of genetic variations were found to be associated with perinatal depression symptoms, most of them in ESR1. Moreover, DNA methylation marks involved in oestrogen signalling, and gene expression levels of ESR1 and ESR2, were found to be associated with perinatal depression symptoms.
Conclusions
Genetic variations, epigenetic modifications and gene expression levels of oestrogen receptor genes are associated with susceptibility to perinatal depression symptoms. The underlying mechanism might be the inter-individual modulation of the encoded receptors’ sensitivity to oestrogen. Future research employing more comprehensive and integrative approaches is needed to better understand the aetiology of perinatal depression symptoms.
Seed dormancy is the key factor determining weed emergence patterns in the field. Alopecurus myosuroides (black grass) is a serious cereal weed in Europe that experiences two emergence peaks affecting winter and spring cereals, respectively. Seedlings that emerge in autumn encounter a period of cold winter temperatures, whereas those that emerge in spring do not. In this work, we investigated the effects of this overwintering during vegetative growth on the primary seed dormancy of the offspring. Alopecurus myosuroides plants were propagated under controlled conditions where a proportion of the population was subjected to a simulated winter period (vernalization) as seedlings. The offspring produced by vernalized plants was significantly more dormant, requiring longer after-ripening and cold stratification treatments to germinate at warm temperatures. However, there was no difference in the range of temperatures under which dormant seeds germinated. We hypothesized that this difference in dormancy was the result of an epigenetic memory of vernalization. Global changes in DNA methylation of seeds were quantified using an ELISA-based approach. Imbibition in dormant seeds produced by vernalized plants was associated with a global demethylation event that was not observed in the offspring of plants that had not been vernalized. Taken together, these results demonstrate the importance of temperature at different stages of the plant lifecycle in determining dormancy levels and consequently weed emergence patterns in the field.
This chapter explores the transformative power of learning on the brain, particularly focusing on musical engagement. Research demonstrates that music training influences both brain function and anatomy. Studies reveal pianists exhibiting enhanced brain responses to piano tones, musicians outperforming non-musicians in perceiving subtle pitch variations, and even short-term music lessons improving children’s reading skills. The chapter also highlights the impact of practice on brain structure. Professional musicians, for instance, show anatomical differences in auditory and motor cortices, with more pronounced changes linked to early musical training. These changes, primarily attributed to the formation of new neural connections, underscore the brain’s remarkable plasticity. The author proposes that exceptional skills arise from a combination of genetics, environment, and epigenetic changes. He emphasizes the importance of adopting a mindset of unconditional self-acceptance, as negative self-judgment can hinder the therapeutic benefits of music.
Edited by
Richard Pinder, Imperial College of Science, Technology and Medicine, London,Christopher-James Harvey, Imperial College of Science, Technology and Medicine, London,Ellen Fallows, British Society of Lifestyle Medicine
The epigenome is a set of chemical modifications that affect how genes are expressed. These modifications can be influenced by environmental and lifestyle factors, such as diet, exercise, sleep, and stress, throughout the lifespan. One of the common pathways that mediates the effects of epigenetics on health is chronic inflammation, which is involved in many diseases and can be reduced by adopting healthy lifestyle habits. The human microbiome is also relevant in understanding the physiological mechanisms by which lifestyle, in particular nutrition, affects health. The microbiome is the collection of microorganisms that live in and on the human body. The microbiome has a key role in modulating the immune system, metabolism, and brain health. The most diverse and influential part of the microbiome is the gut microbiome, which consists of trillions of bacteria, viruses, fungi, and other microbes that reside in the gastrointestinal tract. A healthy and balanced gut microbiome is associated with many benefits for physical and mental health, while an imbalance or dysbiosis can lead to many chronic conditions. The gut microbiome communicates with the brain through the gut–brain axis, which is a complex network of nerves, hormones, and neurotransmitters that influences mood, cognition, and behaviour.
Obesity is a worsening global epidemic that is detrimentally affecting women’s reproductive health. Being obese not only decreases fertility, but also increases miscarriage rates and other pregnancy complications. Perhaps even more significant is the increasing evidence demonstrating associations between maternal obesity and long-term risks of obesity and metabolic disturbances in the offspring.
The mechanisms mediating the effects of obesity on early pregnancy are likely multifactorial, involving oocyte quality, embryo competence, endometrial receptivity, and fetal development. Early pregnancy is a critical time that strongly influences the fate of the pregnancy as well as the health of the next generation.
Richard Tremblay started his professional career as a clinician with juvenile delinquents and mentally ill offenders. He spent the rest of his career doing longitudinal and experimental studies to identify effective preventive interventions during the preschool and elementary school years. Results from these studies showed that early interventions with at risk children and their parents had very long-term impacts. Within these longitudinal studies, he also studied genetic and epigenetic effects on the development of violent behavior.
Over the past half-century attachment theory has emerged as a driving force for research and practice across much of the developmental psychology community. Some of the most compelling empirical support for the biological basis of attachment theory has come from research with monkeys. This chapter highlights some contributions that my colleagues and I have made in generating this evidence by broadening the range of activities associated with attachment throughout development, exploring the relationship between behavioral patterns and a host of biological processes including some genetic factors, and characterizing the consequences of different expressions of attachment for the external social world that is progressively engaged throughout development. This body of nonhuman primate research has featured several important turning points, largely the product of certain unique combinations of colleagues and circumstances that served to generate major inflection points in shaping the direction and scope of the research described here.
Primary neoplasm of the external auditory canal has historically been documented to have a low incidence rate of between one and six per million internationally, with UK incidence yet to be officially cited.
Methods
Here, we report a rise in incidence at a single UK trust with seven carcinomas (six T4 external auditory canal squamous cell and one T4 basal cell) reported within an 18-month period. All tumours underwent next generation sequencing.
Results
The cases recorded represented a twofold rise in incidence in reference to international literature from a population-adjusted estimate of 0.5–3 cases for the catchment area to seven cases. All cases were treated with temporal bone resections (n = 7) and with post-operative radiotherapy in six cases. Tumour analysis showed all were TP53 mutant and human papilloma virus (HPV)/P16 negative.
Conclusion
We suggest chronic inflammation and genetic alterations as putative contributory factors in our case series and outline clinical strategies for timely detection of external auditory canal neoplasms.
Up to 30% of people infected with SARS-CoV-2 report disabling symptoms 2 years after the infection. Over 100 persistent symptoms have been associated with Post-Acute COVID-19 Symptoms (PACS) and/or long-COVID, showing a significant clinical heterogeneity. To develop effective, patient-targeted treatment, a better understanding of underlying mechanisms is needed. Epigenetics has helped elucidating the pathophysiology of several health conditions and it might help unravelling inter-individual differences in patients with PACS and long-COVID. As accumulating research is exploring epigenetic mechanisms in PACS and long-COVID, we systematically summarized the available literature on the topic.
Methods
We interrogated five databases (Medline, Embase, Web of Science, Scopus and medXriv/bioXriv) and followed PRISMA and SWiM guidelines to report our results.
Results
Eight studies were included in our review. Six studies explored DNA methylation in PACS and/or long-COVID, while two studies explored miRNA expression in long-COVID associated with lung complications. Sample sizes were mostly small and study quality was low or fair. The main limitation of the included studies was a poor characterization of the patient population that made a homogeneous synthesis of the literature challenging. However, studies on DNA methylation showed that mechanisms related to the immune and the autonomic nervous system, and cell metabolism might be implicated in the pathophysiology of PACS and long-COVID.
Conclusion
Epigenetic changes might help elucidating PACS and long-COVID underlying mechanisms, aid subgrouping, and point towards tailored treatments. Preliminary evidence is promising but scarce. Biological and epigenetic research on long-COVID will benefit millions of people suffering from long-COVID and has the potential to be transferable and benefit other conditions as well, such as Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS). We urge future research to employ longitudinal designs and provide a better characterization of included patients.
Recent development in immunotherapy for cancer treatment has substantiated to be more effective than most of the other treatments. Immunity is the first line of defence of the body; nevertheless, cancerous cells can manipulate immunity compartments to play several roles in tumour progression. Tumour-associated macrophages (TAMs), one of the most dominant components in the tumour microenvironment, are recognized as anti-tumour suppressors. Unfortunately, the complete behaviour of TAMs is still unclear and understudied. TAM density is directly correlated with the progression and poor prognosis of hepatocellular carcinoma (HCC), therefore studying TAMs from different points of view passing by all the factors that may affect its existence, polarization, functions and repolarization are of great importance. Different epigenetic regulations were reported to have a direct relation with both HCC and TAMs. Here, this review discusses different epigenetic regulations that can affect TAMs in HCC whether positively or negatively.
Although resilient youth provide an important model of successful adaptation to adversity, we know relatively little about the origins of their positive outcomes, particularly the role of biological mechanisms. The current study employed a series of methylome-wide association studies to identify methylomic biomarkers of resilience in a unique sample of 276 twins within 141 families residing in disadvantaged neighborhoods. Results revealed methylome-wide significant differentially methylated probes (DMPs) for social and academic resilience and suggestive DMPs for psychological resilience and resilience across domains. Pathway analyses informed our understanding of the biological underpinnings of significant differentially methylated probes. Monozygotic twin difference analyses were then employed to narrow in on DMPs that were specifically environmental in origin. Our findings suggest that alterations in the DNA methylome may be implicated in youth resilience to neighborhood adversity and that some of the suggestive DMPs may be environmentally engendered. Importantly, our ability to replicate our findings in a well-powered sample was hindered by the scarcity of twin samples with youth exposed to moderate to substantial levels of adversity. Thus, although preliminary, the present study is the first to identify DNA methylation biomarkers of academic and social resilience.
This chapter investigates possible future directions of the DOHaD framework. Specifically, it discusses options to translate the framework into the Anthropocene. In a first step, I outline how recent research on epigenetics, the human microbiome, and planetary boundaries challenges notions of origin and development embedded in DOHaD research. I then outline three distinct modes of interdisciplinary collaboration: subordination–service, integration–synthesis, and agonistic–antagonistic. I discuss how each of these modes offers the possibility to conduct research across the nature–culture divide and address human bodies and environments as anthropogenic due to their complex natural, social, and political histories. I conclude that the DOHaD framework needs to embrace the idea of anthropogenic biology to address the challenges of the Anthropocene and take responsibility for the knowledge that it produces in an attempt to shape a politics of habitability for our planet.
In this introduction to the Handbook of DOHaD and Society, we provide an overview of the biosocial research field of the Developmental Origins of Health and Disease (DOHaD). We first trace the evolution of this interdisciplinary field over the past two decades, charting the historical conditions that have brought DOHaD to a critical moment when the field is at a threshold of interdisciplinary innovation across both life and social sciences. We then discuss the biosocial perspective that DOHaD offers as its central premise and promise, allowing for questions of socio-environmental justice, discrimination, and equity to be centred in science and biomedicine. We explore the challenges that complicate this biosocial agenda in practice and attend to questions of research translation, interdisciplinary collaboration, and the socio-cultural dimensions of DOHaD-based health interventions. We end by highlighting the transformational potential of the DOHaD research paradigm and how this handbook offers a toolkit for robust interdisciplinary research in this field.
Embodiment is a key concept in the social sciences and has been particularly useful in discussions of the body, health, and disease. Embodiment allows us to connect the subjective experiences of the body, as well as its lived materiality, to broader social contexts. The concept also helps researchers make sense of the ways in which the body is inscribed with history, politics, and culture. This chapter explores the concept of embodiment in the social sciences and its potential use in DOHaD. We argue that it is important to integrate concepts/tools from the social sciences, in this case embodiment, as biosocial collaborations compel cross-disciplinary legibility and a shared vocabulary. Moreover, this integration of concepts and tools would allow DOHaD as a field to deepen awareness and understanding of the kind of influence environmental experiences can have on the development of health and disease over the lifecourse. We suggest that this deeper awareness and understanding achieved through employing the embodiment concept can make DOHaD research and interventions more socially just and socially sensitive.
The term ‘intergenerational trauma’ describes how trauma experienced in one generation can reverberate in the lives of descendants. The concept has been variously defined in relation to other disciplines and has overlaps with cognate concepts, including historical trauma, transgenerational trauma, and post-traumatic stress disorder (PTSD). In this chapter, we provide a conceptual overview of intergenerational trauma in the interdisciplinary field of DOHaD research. Intergenerational trauma is of interest to many disciplines and frameworks in part because it lends itself to ’biosocial’ understandings of violence and discriminatory social contexts as physiologically embodied. Yet, intergenerational trauma also presents challenges for scientific study due to the difficulties inherent in stabilising it as a scientific object. Given the growing public interest in intergenerational trauma and its routinised clinical uptake for the care of marginalised communities, this chapter also considers a range of important questions related to policy translation, biopolitics, and social justice.
DOHaD research on preconception, prenatal, and early-life periods of human development can provide a critical resource for legal thinkers interrogating the lines of responsibility for environmental harms (both physical and psychosocial) that affect a child’s growth and development. DOHaD scholars who engage with epigenetic research offer an evidentiary narrative that traces the causal origin of early-life health harms to events that have occurred during pregnancy and prior to conception. Scientific research is increasingly providing evidence that those who suffer disadvantage throughout their lifecourse (in conditions of systemic oppression such as from racism, sexism, or poverty) may be disproportionately subject to molecular changes, creating harmed subgroups that are then intergenerationally reproduced as socially disadvantaged communities. Drawing examples from Australia, the United States, and Canada, this chapter asks what legal obligations, if any, should or can be imposed on contemporary society to ensure not just the future ’health’ of existing children (as they grow into adults) but also the generations of people yet to be born. It is argued that traditional common law legal responses that place responsibility on the individual rather than the community do not ensure intergenerational justice.
This chapter argues against the narrative that posits a pre-twentieth century past, where the mother and fetus were one, in contrast with the present, where the fetus is visible and autonomous. I complicate this narrative by showing that the maternal–fetal relationship was redrawn and reinterpreted multiple times in the twentieth century. The ‘fetal parasite’ era was informed by the hereditarianism of the early 1900s. The notion of a developing organism sensitive to external influences was replaced by a remarkably sheltered fetus. In contrast, concerns around the physical and psychological trauma following the Second World War supported the notion of ‘critical’ periods, responsive to external influences mediated by the mother. Yet soon thereafter, the language and imagery of an autonomous, self-sufficient fetus became prevalent amidst political battles over abortion. The notion of the autonomous fetus is linked to evolutionary biology’s 1970s concepts of the ‘selfish gene’ – with the ‘selfish’ fetus pitted against the mother in the struggle over scarce resources. By the 1990s, the rise of DOHaD and epigenetics signalled a return of the maternally mediated environment to the science of human development. While some interpreted this as a return to the pre-modern model, there is a significant difference. Here maternal experiences and surroundings have to be rendered accessible to an experimental, molecular approach and to show evidence of a quantifiable change in observed parameters.