Epigenetics and Applied Anthropology

Author(s):  
Charles H. Klein

Since Francis Crick and James D. Watson’s discovery of DNA in 1953, researchers, policymakers, and the general public have sought to understand the ways in which genetics shapes human lives. A milestone in these efforts was the completion of the Human Genome Project’s (HGP) sequencing of Homo sapiens’ nearly three million base pairs in 2003. Yet, despite the excitement surrounding the HGP and the discovery of the structural genetic underpinnings of several debilitating diseases, the vast majority of human health outcomes have not been linked to a single gene. Moreover, even when genes have been associated with particular diseases (e.g., breast and colon cancer), it is not well understood why certain genetically predisposed individuals become ill and others do not. Nor has the HGP’s map provided sufficient information to understand the actual functioning of the human genetic code, including the role of noncoding DNA (“junk DNA”) in regulating molecular genetic processes. In response, a growing number of scientists have shifted their attention from structural genetics to epigenetics, the study of how genes express themselves in particular situations and environments. Anthropologists play roles in these applications of epigenetics to real-world settings. Their new theoretical frameworks unsettle the nature-versus-nurture binary and support biocultural anthropological research demonstrating how race becomes biology and embodies social inequalities and health disparities across generations. Ethnographically grounded case studies further highlight the diverse epigenetic logics held by healthcare providers, researchers, and patient communities and how these translations of scientific knowledge shape medical practice and basic research. The growing field of environmental epigenetics also offers a wide range of options for students and practitioners interested in applying the anthropological toolkit in epigenetics-related work.

1996 ◽  
Vol 28 (4) ◽  
pp. 490-507 ◽  
Author(s):  
Jo Daniels ◽  
Peter McGuffin ◽  
Mike Owen

An obvious requirement before embarking on molecular genetic investigation of a trait is prior evidence from ‘classic’ genetic studies that there is indeed a genetic component. Many behavioural traits are familial and these range from comparatively uncommon single gene disorders such as Huntington's disease which has a typical mendelian dominant pattern of transmission, to much commoner characteristics such as career choice or religious denomination which, it might be assumed, are heavily influenced by cultural factors. In between, there is a wide range of attributes including personality type, cognitive ability and liability to common disorders such as depression, that show a tendency to run in families, and which could conceivably be explained by shared genes, shared environment or a combination of the two.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Adva Aizer ◽  
Noa Harel-Inbar ◽  
Hagit Shani ◽  
Raoul Orvieto

Abstract Background Preimplantation genetic testing (PGT) is offered to a wide range of structural and numerical chromosomal imbalances, with PGT- polymerase chain reaction (PCR), as the method of choice for amplifying the small DNA content achieved from the blastomere biopsy or trophectoderm (TE) biopsy, that might have a detrimental impact on embryonic implantation potential. Since human embryos cultured until Day-5–6 were noticed to expel cell debris/ fragments within the zona pellucida, we aimed to examine whether these cell debris/ fragments might be used for PGT, as an alternative to embryo biopsy. Methods Blastocysts, which their Day-3 blastomere biopsy revealed an affected embryo with single-gene defect, and following hatching leaved cell debris/fragments within the zona pellucida were analyzed. Each blastocyst and its corresponding cell debris/fragments were separated and underwent the same molecular analysis, based on multiplex PCR programs designed for haplotyping using informative microsatellites markers. The main outcome measure was the intra-embryo congruity of Day-3 blastomere biopsy and its corresponding blastocyst and cell debris/fragments. Results Fourteen affected embryos from 9 women were included. Only 8/14 (57.2%) of embryos demonstrated congruent molecular genetic results between Day-3 embryo and its corresponding blastocyst and cell debris/fragments. In additional 6/14 (42.8%) embryos, molecular results of the Day-3 embryos and their corresponding blastocysts were congruent, while the cell debris/fragments yielded no molecular diagnoses (incomplete diagnoses). Conclusions It might be therefore concluded, that in PGT cycles, examining the cell debris/fragments on Day-4, instead of Day-3 blastomere or Day-5 TE biopsies, is feasible and might avoid embryo biopsy with its consequent detrimental effect on embryos’ implantation potential. Whenever the latter results in incomplete diagnosis, TE biopsy should be carried out on Day-5 for final genetic results. Further large well-designed studies are required to validate the aforementioned PGT platform.


Author(s):  
Julia Yates

Career theories are developed to help make sense of the complexity of career choice and development. The intricacy of the subject matter is such that career theories most often focus on one or two aspects of the phenomenon. As such, the challenges of integrating the theories with each other, and integrating them within career practice, are not insignificant. In this chapter, an overview of the theoretical landscape is offered that illustrates how the theories align with each other to build up a comprehensive picture of career choice and development. The chapter introduces a wide range of theoretical frameworks, spanning seven decades and numerous academic disciplines, and discusses the most well-known theorists alongside less familiar names. The chapter is structured around four concepts: identity, environment, career learning, and psychological career resources. Suggestions are offered for the incorporation of theories in career practice.


2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Annabel Boyer ◽  
Yannick Begin ◽  
Julie Dupont ◽  
Mathieu Rousseau-Gagnon ◽  
Nicolas Fernandez ◽  
...  

Abstract Background Health literacy refers to the ability of individuals to gain access to, use, and understand health information and services in order to maintain a good health. It is especially important in nephrology due to the complexity of chronic kidney disease (CKD). The present study sought to define health literacy levels in patients followed in predialysis clinic, in-center dialysis (ICHD), peritoneal dialysis (PD) and home hemodialysis (HHD). Methods This transversal monocentric observational study analysed 363 patients between October 2016 and April 2017. The Brief Health Literacy Screen (BHLS) and the Health Literacy Questionnaire (HLQ) were used to measure health literacy. Multivariate linear regressions were used to compare the mean scores on the BHLS and HLQ, across the four groups. Results Patients on PD had a significantly higher BHLS’score than patients on ICHD (p = 0.04). HLQ’s scores differed across the groups: patients on HHD (p = 0.01) and PD (p = 0.002) were more likely to feel understood by their healthcare providers. Compared to ICHD, patients on HHD were more likely to have sufficient information to manage their health (p = 0.02), and patients in the predialysis clinic were more likely to report high abilities for health information appraisal (p < 0.001). Conclusion In a monocentric study, there is a significant proportion of CKD patients, especially in predialysis clinic and in-centre hemodialysis, with limited health literacy. Patients on home dialysis (HHD and PD) had a higher level of health literacy compared to the other groups.


Author(s):  
Takeuchi Ayano

AbstractPublic participation has become increasingly necessary to connect a wide range of knowledge and various values to agenda setting, decision-making and policymaking. In this context, deliberative democratic concepts, especially “mini-publics,” are gaining attention. Generally, mini-publics are conducted with randomly selected lay citizens who provide sufficient information to deliberate on issues and form final recommendations. Evaluations are conducted by practitioner researchers and independent researchers, but the results are not standardized. In this study, a systematic review of existing research regarding practices and outcomes of mini-publics was conducted. To analyze 29 papers, the evaluation methodologies were divided into 4 categories of a matrix between the evaluator and evaluated data. The evaluated cases mainly focused on the following two points: (1) how to maintain deliberation quality, and (2) the feasibility of mini-publics. To create a new path to the political decision-making process through mini-publics, it must be demonstrated that mini-publics can contribute to the decision-making process and good-quality deliberations are of concern to policy-makers and experts. Mini-publics are feasible if they can contribute to the political decision-making process and practitioners can evaluate and understand the advantages of mini-publics for each case. For future research, it is important to combine practical case studies and academic research, because few studies have been evaluated by independent researchers.


Author(s):  
Patrick Bodenmann ◽  
Miriam Kasztura ◽  
Madison Graells ◽  
Elodie Schmutz ◽  
Oriane Chastonay ◽  
...  

Frequent users of emergency departments (FUED; ≥ 5 ED visits/year) commonly cumulate medical, social, and substance use problems requiring complex and sustained care coordination often unavailable in ED. This study aimed to explore ED healthcare providers’ challenges related to FUED care to gain insight into the support and resources required to address FUED complex needs. An online survey was sent to all general adult emergency services within Switzerland (N = 106). Participants were asked to indicate the extent to which they perceived that FUED represented a problem and to describe the main challenges encountered. In total, 208 physicians and nurses from 75 EDs (70.7%) completed the survey. Among the 208 participants, 134 (64%) reported that FUED represented a challenge and 133 described 1 to 5 challenges encountered. A conventional content analysis yielded 4 main categories of perceived challenges. Negative consequences in the ED secondary to FUED’s presence (eg, ED overcrowding, staff helplessness, and fatigue) was the most frequently reported challenge, followed by challenges related to FUEDs’ characteristics (eg, mental health and social problems) leading to healthcare complexity. The third most frequently encountered challenge was related to the ED inappropriateness and inefficiency to address FUEDs’ needs. Finally, challenges related to the lack of FUED healthcare network were the least often mentioned. ED healthcare providers experience a wide range of challenges related to FUED care. These findings suggest that currently EDs nor their staff are equipped to address FUEDs’ complex needs.


2021 ◽  
Vol 22 (12) ◽  
pp. 6403
Author(s):  
Md Saidur Rahman ◽  
Khandkar Shaharina Hossain ◽  
Sharnali Das ◽  
Sushmita Kundu ◽  
Elikanah Olusayo Adegoke ◽  
...  

Insulin is a polypeptide hormone mainly secreted by β cells in the islets of Langerhans of the pancreas. The hormone potentially coordinates with glucagon to modulate blood glucose levels; insulin acts via an anabolic pathway, while glucagon performs catabolic functions. Insulin regulates glucose levels in the bloodstream and induces glucose storage in the liver, muscles, and adipose tissue, resulting in overall weight gain. The modulation of a wide range of physiological processes by insulin makes its synthesis and levels critical in the onset and progression of several chronic diseases. Although clinical and basic research has made significant progress in understanding the role of insulin in several pathophysiological processes, many aspects of these functions have yet to be elucidated. This review provides an update on insulin secretion and regulation, and its physiological roles and functions in different organs and cells, and implications to overall health. We cast light on recent advances in insulin-signaling targeted therapies, the protective effects of insulin signaling activators against disease, and recommendations and directions for future research.


2001 ◽  
Vol 178 (S41) ◽  
pp. s128-s133 ◽  
Author(s):  
Nick Craddock ◽  
Ian Jones

BackgroundA robust body of evidence from family, twin and adoption studies demonstrates the importance of genes in the pathogenesis of bipolar disorder. Recent advances in molecular genetics have made it possible to identify these susceptibility genes.AimsTo present an overview for clinical psychiatrists.MethodReview of current molecular genetics approaches and emerging findings.ResultsOccasional families may exist in which a single gene plays a major role in determining susceptibility, but the majority of bipolar disorder involves more complex genetic mechanisms such as the interaction of multiple genes and environmental factors. Molecular genetic positional and candidate gene approaches are being used for the genetic dissection of bipolar disorder. No gene has yet been identified but promising findings are emerging. Regions of interest include chromosomes 4p16, 12q23–q24, 16p13, 21q22, and Xq24–q26. Candidate gene association studies are in progress but no robust positive findings have yet emerged.ConclusionIt is almost certain that over the next few years the identification of bipolar susceptiblity genes will have a major impact on our understanding of disease pathophysiology. This is likely to lead to major improvements and treatment in patient care, but will also raise important ethical issues.


2011 ◽  
Vol 437 (2) ◽  
pp. 215-222 ◽  
Author(s):  
Christopher G. R. Perry ◽  
Daniel A. Kane ◽  
Chien-Te Lin ◽  
Rachel Kozy ◽  
Brook L. Cathey ◽  
...  

Assessment of mitochondrial ADP-stimulated respiratory kinetics in PmFBs (permeabilized fibre bundles) is increasingly used in clinical diagnostic and basic research settings. However, estimates of the Km for ADP vary considerably (~20–300 μM) and tend to overestimate respiration at rest. Noting that PmFBs spontaneously contract during respiration experiments, we systematically determined the impact of contraction, temperature and oxygenation on ADP-stimulated respiratory kinetics. BLEB (blebbistatin), a myosin II ATPase inhibitor, blocked contraction under all conditions and yielded high Km values for ADP of >~250 and ~80 μM in red and white rat PmFBs respectively. In the absence of BLEB, PmFBs contracted and the Km for ADP decreased ~2–10-fold in a temperature-dependent manner. PmFBs were sensitive to hyperoxia (increased Km) in the absence of BLEB (contracted) at 30 °C but not 37 °C. In PmFBs from humans, contraction elicited high sensitivity to ADP (Km<100 μM), whereas blocking contraction (+BLEB) and including a phosphocreatine/creatine ratio of 2:1 to mimic the resting energetic state yielded a Km for ADP of ~1560 μM, consistent with estimates of in vivo resting respiratory rates of <1% maximum. These results demonstrate that the sensitivity of muscle to ADP varies over a wide range in relation to contractile state and cellular energy charge, providing evidence that enzymatic coupling of energy transfer within skeletal muscle becomes more efficient in the working state.


2020 ◽  
Vol 2020 (2) ◽  
pp. 5-12
Author(s):  
Maksim Doronin ◽  
Dmitriy Lozovoy ◽  
Aleksey Scherbakov ◽  
Vladimir Makarov

To date the molecular genetic methods of analysis are widely used for laboratory diagnostic tests in various infectious diseases of animals. This discourse reflects information about the history of the invention of real-time polymerase chain reaction (PCR-RV), the nature of the processes that occur during this reaction, the main stages of the reaction, the preparation of biological material for research in PCR-RV. The spectrum of possibilities of using the PCR-RV method for a qualitative study of biological material in cases of suspected infection of animals with certain viral and bacterial agents, as well as a quantitative assessment of the virus content in tissues, organs or in the body by analogy with conventional methods for titrating infectiousness without direct manipulation with pathogenic agents, is presented. . A quantitative PCR-RV option allows veterinarians to evaluate the pathogenetic dynamics of the development of the disease, monitor the effect of antiviral and antibacterial therapy, and monitor the emergence of pathogen variants with high resistance to the drugs used. Thanks to the development of ARRIAH, the qualitative and quantitative PCR-RV method can now be used in domestic veterinary science and laboratory practice for the diagnosis of a wide range of animal infectious diseases.


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