scholarly journals Iron deficiency and iron overload: effects of diet and genes

2001 ◽  
Vol 60 (1) ◽  
pp. 73-80 ◽  
Author(s):  
Wylie Burke ◽  
Giuseppina Imperatore ◽  
Michelle Reyes
Keyword(s):  
Genetic Variants ◽  
Animal Studies ◽  
Primary Liver Cancer ◽  
Regulatory System ◽  
Autosomal Recessive Disorder ◽  
The Body ◽  
Fe Deficiency ◽  
Genetic Syndromes ◽  
New Therapeutic Approaches ◽  
Optimal Health

Like most essential nutrients, Fe needs to be maintained in the body at a defined level for optimal health, with appropriate adaptation to varying Fe needs and supply. The primary mechanism for controlling Fe level is the regulation of Fe absorption. Several different proteins have been identified as contributors to the process. Despite a complex regulatory system, Fe disorders (both Fe deficiency and Fe overload) occur. Fe deficiency is a common problem worldwide, resulting from inadequate dietary Fe and blood loss. Complications include pre-term labour, developmental delay, and impaired work efficiency. No specific genetic syndromes causing isolated Fe deficiency have been described, but animal studies and clinical observations suggest that such a relationship may be a possibility. Conversely, the known causes of Fe overload are genetic. Fe overload is less common than Fe deficiency, but can result in serious medical complications, including cirrhosis, primary liver cancer, diabetes, cardiomyopathy and arthritis. The most common and best characterized syndrome of Fe overload is hereditary haemochromatosis (HHC), an autosomal recessive disorder. Mutations in the HFE protein cause HHC, but the clinical presentation is variable. Of particular interest is the factor that some HFE genotypes appear to be associated with protection from Fe deficiency. Other genetic variants in the regulatory pathway may influence the likelihood of Fe deficiency and Fe overload. Studies of genetic variants in HFE and other regulatory proteins provide important tools for studying the biological processes in Fe regulation. This work is likely to lead to new insights into Fe disorders and potentially to new therapeutic approaches. It will not be complete, however, until coordinated study of both genetic and nutritional factors is undertaken.

scholarly journals Genetic variants for head size share genes and pathways with cancer

2020 ◽  
Author(s):  
Maria J. Knol ◽  
Raymond A. Poot ◽  
Tavia E. Evans ◽  
Claudia L. Satizabal ◽  
Aniket Mishra ◽  
...  
Keyword(s):  
General Population ◽  
Genetic Variants ◽  
Genome Wide Association Study ◽  
Early Adulthood ◽  
Human Head ◽  
Brain Regions ◽  
The Body ◽  
Head Size ◽  
Cancer Genes ◽  
Genetic Syndromes

AbstractThe size of the human head is determined by growth in the first years of life, while the rest of the body typically grows until early adulthood1. Such complex developmental processes are regulated by various genes and growth pathways2. Rare genetic syndromes have revealed genes that affect head size3, but the genetic drivers of variation in head size within the general population remain largely unknown. To elucidate biological pathways underlying the growth of the human head, we performed the largest genome-wide association study on human head size to date (N = 79,107). We identified 67 genetic loci, 50 of which are novel, and found that these loci are preferentially associated with head size and mostly independent from height. In subsequent neuroimaging analyses, the majority of genetic variants demonstrated widespread effects on the brain, whereas the effects of 17 variants could be localized to one or two specific brain regions. Through hypothesis-free approaches, we find a strong overlap of head size variants with both cancer pathways and cancer genes. Gene set analyses showed enrichment for different types of cancer and the p53, Wnt and ErbB signalling pathway. Genes overlapping or close to lead variants – such as TP53, PTEN and APC – were enriched for genes involved in macrocephaly syndromes (up to 37-fold) and high-fidelity cancer genes (up to 9-fold), whereas this enrichment was not seen for human height variants. This indicates that genes regulating early brain and cranial growth are associated with a propensity to neoplasia later in life, irrespective of height. Our results warrant further investigations of the link between head size and cancer, as well as its clinical implications in the general population.

scholarly journals Mindfulness Research Update: 2008

2009 ◽  
Vol 14 (1) ◽  
pp. 10-18 ◽  
Author(s):  
Jeffrey M. Greeson
Keyword(s):  
Quality Of Life ◽  
Stress Reduction ◽  
Mindfulness Meditation ◽  
Stress Hormones ◽  
Theoretical Work ◽  
The Body ◽  
Mindfulness Practice ◽  
Optimal Health ◽  
The Brain

Objective: To briefly review the effects of mindfulness on the mind, the brain, the body, and behavior. Methods: Selective review of MEDLINE, PsycINFO, and Google Scholar databases (2003—2008) using the terms ``mindfulness,'' ``meditation,'' ``mental health,'' ``physical health,'' ``quality of life,'' and ``stress reduction.'' A total of 52 exemplars of empirical and theoretical work were selected for review. Results: Both basic and clinical research indicate that cultivating a more mindful way of being is associated with less emotional distress, more positive states of mind, and better quality of life. In addition, mindfulness practice can influence the brain, the autonomic nervous system, stress hormones, the immune system, and health behaviors, including eating, sleeping, and substance use, in salutary ways. Conclusion: The application of cutting-edge technology toward understanding mindfulness— an ``inner technology''—is elucidating new ways in which attention, awareness, acceptance, and compassion may promote optimal health—in mind, body, relationships, and spirit.

Safety assessment of natural products in Malaysia: current practices, challenges, and new strategies

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Nur Azra M. Pauzi ◽  
Manraj S. Cheema ◽  
Amin Ismail ◽  
Ahmad Rohi Ghazali ◽  
Rozaini Abdullah
Keyword(s):  
Natural Products ◽  
Animal Studies ◽  
Regulatory System ◽  
The United States ◽  
Regulatory Control ◽  
Health Maintenance ◽  
Traditional Medicines ◽  
Aristolochic Acids ◽  
United States Food ◽  
States Food

Abstract The belief that natural products are inherently safe is a primary reason for consumers to choose traditional medicines and herbal supplements for health maintenance and disease prevention. Unfortunately, some natural products on the market have been found to contain toxic compounds, such as heavy metals and microbes, as well as banned ingredients such as aristolochic acids. It shows that the existing regulatory system is inadequate and highlights the importance of thorough safety evaluations. In Malaysia, the National Pharmaceutical Regulatory Agency is responsible for the regulatory control of medicinal products and cosmetics, including natural products. For registration purpose, the safety of natural products is primarily determined through the review of documents, including monographs, research articles and scientific reports. One of the main factors hampering safety evaluations of natural products is the lack of toxicological data from animal studies. However, international regulatory agencies such as the European Food Safety Authority and the United States Food and Drug Administration are beginning to accept data obtained using alternative strategies such as non-animal predictive toxicological tools. Our paper discusses the use of state-of-the-art techniques, including chemometrics, in silico modelling and omics technologies and their applications to the safety assessments of natural products.

scholarly journals Ellagic Acid Suppresses the Oxidative Stress Induced by Dietary-Oxidized Tallow

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Alam Zeb ◽  
Adnan Akbar
Keyword(s):  
Oxidative Stress ◽  
Fatty Acids ◽  
Ellagic Acid ◽  
Animal Studies ◽  
Radical Scavenging Activity ◽  
Radical Scavenging ◽  
Thiobarbituric Acid ◽  
Rabbit Heart ◽  
The Body ◽  
Margaric Acid

Dietary tallow was thermally oxidized at 180°C in an open fryer. The oxidized tallow (OT) and unoxidized tallow were characterized for oxidation parameters and fatty acid composition using GC-MS. Tallow samples were fed to rabbits along with 50, 100, and 150 mg/kg/day of ellagic acid (EA) for three weeks. Results revealed that the peroxide value (PV) and thiobarbituric acid reactive substances (TBARS) significantly increased, while radical scavenging activity (RSA) of the tallow decreased significantly with oxidation. GC-MS analysis showed eight fatty acids in the tallow samples, where palmitic acid (48.5-49.7 g/100 g), linoleic acid (18.7-23.7 g/100 g), stearic acid (13.5-15.6 g/100 g), and margaric acid (6.32-6.42 g/100 g) were the major fatty acids. Animal studies showed that oxidized tallow (OT) alone or in combination with EA significantly altered the body weight of the rabbits. Serum biochemical parameters and renal function tests were affected by OT and ameliorated by EA. The toxic effects of OT on haematological indices were minimized by EA. The supplementation of OT alone had significant effects on the liver structure and functions. The coadministration of EA reduced the toxic properties of OT on the liver, by increasing the antioxidant (GSH) system. The rabbit heart was also affected by the OT, which was ameliorated by EA supplementation. These results suggested that the supplementation of EA was beneficial against the OT-induced oxidative stress and may be considered for foods containing oxidized lipids.

scholarly journals Peptide hormone relaxin: from bench to bedside

2018 ◽  
Vol 314 (6) ◽  
pp. R753-R760 ◽  
Author(s):  
Maria Jelinic ◽  
Sarah A. Marshall ◽  
Dennis Stewart ◽  
Elaine Unemori ◽  
Laura J. Parry ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Animal Models ◽  
Animal Studies ◽  
Ischemia Reperfusion ◽  
Peptide Hormone ◽  
The Body ◽  
Cervical Ripening ◽  
Matrix Remodeling ◽  
Vitro Fertilization

The peptide hormone relaxin has numerous roles both within and independent of pregnancy and is often thought of as a “pleiotropic hormone.” Relaxin targets several tissues throughout the body, and has many functions associated with extracellular matrix remodeling and the vasculature. This review considers the potential therapeutic applications of relaxin in cervical ripening, in vitro fertilization, preeclampsia, acute heart failure, ischemia-reperfusion, and cirrhosis. We first outline the animal models used in preclinical studies to progress relaxin into clinical trials and then discuss the findings from these studies. In many cases, the positive outcomes from preclinical animal studies were not replicated in human clinical trials. Therefore, the focus of this review is to evaluate the various animal models used to develop relaxin as a potential therapeutic and consider the limitations that must be addressed in future studies. These include the use of human relaxin in animals, duration of relaxin treatment, and the appropriateness of the clinical conditions being considered for relaxin therapy.

Challenges on the effect of cell phone radiation on mammalian embryos and fetuses: a review of the literature

Zygote ◽  
2021 ◽  
pp. 1-7
Author(s):  
Maryam Mahaldashtian ◽  
Mohammad Ali Khalili ◽  
Fatemeh Anbari ◽  
Mohammad Seify ◽  
Manuel Belli
Keyword(s):  
Embryo Development ◽  
Animal Studies ◽  
Cell Phones ◽  
Cellular Phone ◽  
The Body ◽  
Human Embryos ◽  
Success Rates ◽  
Wide Range

Summary Cell phones operate with a wide range of frequency bands and emit radiofrequency-electromagnetic radiation (RF-EMR). Concern on the possible health hazards of RF-EMR has been growing in many countries because these RF-EMR pulses may be absorbed into the body cells, directly affecting them. There are some in vitro and in vivo animal studies related to the consequences of RF-EMR exposure from cell phones on embryo development and offspring. In addition, some studies have revealed that RF-EMR from cellular phone may lead to decrease in the rates of fertilization and embryo development, as well as the risk of the developmental anomalies, other studies have reported that it does not interfere with in vitro fertilization or intracytoplasmic sperm injection success rates, or the chromosomal aberration rate. Of course, it is unethical to study the effect of waves generated from cell phones on the forming human embryos. Conversely, other mammals have many similarities to humans in terms of anatomy, physiology and genetics. Therefore, in this review we focused on the existing literature evaluating the potential effects of RF-EMR on mammalian embryonic and fetal development.

DROWNING AND THE TREATMENT OF NON-FATAL SUBMERSION

PEDIATRICS ◽  
1966 ◽  
Vol 37 (4) ◽  
pp. 684-698
Author(s):  
Jerome Imburg ◽  
Thomas C. Hartney
Keyword(s):  
Ventricular Fibrillation ◽  
Pulmonary Function ◽  
Fresh Water ◽  
Animal Studies ◽  
Sea Water ◽  
The Body ◽  
Positive Pressure ◽  
Cardiac Massage ◽  
Central Nervous System Damage ◽  
Intermittent Positive Pressure Breathing

Animal studies have shown that fluid enters the body via the lungs in sea-water and fresh-water drowning. In fresh-water drowning in dogs, there is marked and rapid hemodilution with death due to ventricular fibrillation in about 4 minutes. In sea-water drowning in dogs, there is hemoconcentration; the blood water is lost into the sea water in the lungs with bradycardia and death due to asystole in 6 to 8 minutes. Studies of human drowning victims show similar, but less striking, changes in hemodynamics. In human non-fatal submersion the problems are usually those produced by impaired pulmonary function and central nervous system damage due to hypoxia. Hemodilution and ventricular fibrillation have not been documented in human nonfatal submersion. Therapeutic measures may be divided into those of an immediate urgent nature to be employed at the accident scene: expired air resuscitation, which should be started on reaching the unconscious victim in the water, and external cardiac massage, when indicated. Later measures to be instituted in the hospital include: cardiac resuscitation, intermittent positive-pressure breathing, hypothermia, tracheostomy and tracheal tiolet, oxygen therapy, antibiotics, steroids, and intravenous fluids to correct defects in blood elements (hemoglobin, electrolytes, pH). Later, pulmonary function should be studied for impairment due to alveolar damage and fibrosis. Permanent neurologic sequellae may develop.

The Activity of Lateral-Line Efferent Neurones in Stationary and Swimming Dogfish

1972 ◽  
Vol 57 (2) ◽  
pp. 435-448 ◽  
Author(s):  
B. L. ROBERTS ◽  
I. J. RUSSELL
Keyword(s):  
Lateral Line ◽  
Body Movement ◽  
Cranial Nerves ◽  
Regulatory System ◽  
The Body ◽  
Muscle Fibres ◽  
Sense Organs ◽  
Efferent System ◽  
Natural Stimulation ◽  
Stimulation Of

1. The activity of efferent neurones innervating lateral-line organs on the body of dogfish was followed by recording from filaments of cranial nerve X in 41 decerebrate preparations. 2. The efferent nerves were not spontaneously active. 3. Tactile stimulation to the head and body, vestibular stimulation and noxious chemical stimulation were followed by activity of the efferent nerves. 4. In contrast, natural stimulation of lateral-line organs (water jets) did not reflexly evoke discharges from the efferent fibres. 5. Reflex efferent responses were still obtained to mechanical stimulation even after the lateral-line organs had been denervated. 6. Electrical stimulation of cranial nerves innervating lateral-lines organs was followed by reflex activity of the efferent fibres. But similar stimuli applied to other cranial nerves were equally effective in exciting the efferent system. 7. Vigorous movements of the fish, involving the white musculature, were preceded and accompanied by activity of the efferent fibres which persisted as long as the white muscle fibres were contracting. 8. Rhythmical swimming movements were accompanied by a few impulses in the efferent fibres grouped in bursts at the same frequency as the swimming movements. 9. It is concluded that the efferent neurones cannot contribute to a feedback regulatory system because they are not excited by natural stimulation of the lateral-line sense organs. The close correlation found between efferent activity and body movement suggests that the efferent system might operate in a protective manner to prevent the sense organs from being over-stimulated when the fish makes vigorous movements.

scholarly journals Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout

2020 ◽  
Vol 9 (8) ◽  
pp. 2510
Author(s):  
Katerina Pavelcova ◽  
Jana Bohata ◽  
Marketa Pavlikova ◽  
Eliska Bubenikova ◽  
Karel Pavelka ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Uric Acid ◽  
Genetic Variants ◽  
Biochemical Parameters ◽  
Previous Analysis ◽  
Direct Sequencing ◽  
Low Frequency ◽  
European Population ◽  
The Body ◽  
Genes Encoding

Urate transporters, which are located in the kidneys, significantly affect the level of uric acid in the body. We looked at genetic variants of genes encoding the major reabsorption proteins GLUT9 (SLC2A9) and URAT1 (SLC22A12) and their association with hyperuricemia and gout. In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine the SLC22A12 and SLC2A9 genes. Identified variants were evaluated in relation to clinical data, biochemical parameters, metabolic syndrome criteria, and our previous analysis of the major secretory urate transporter ABCG2. We detected seven nonsynonymous variants of SLC2A9. There were no nonsynonymous variants of SLC22A12. Eleven variants of SLC2A9 and two variants of SLC22A12 were significantly more common in our cohort than in the European population (p = 0), while variants p.V282I and c.1002+78A>G had a low frequency in our cohort (p = 0). Since the association between variants and the level of uric acid was not demonstrated, the influence of variants on the development of hyperuricemia and gout should be evaluated with caution. However, consistent with the findings of other studies, our data suggest that p.V282I and c.1002+78A>G (SLC2A9) reduce the risk of gout, while p.N82N (SLC22A12) increases the risk.

scholarly journals Neuroligin dependence of social behaviour in Caenorhabditis elegans provides a model to investigate an autism-associated gene

2020 ◽  
Author(s):  
Helena Rawsthorne ◽  
Fernando Calahorro ◽  
Emily Feist ◽  
Lindy Holden-Dye ◽  
Vincent O’Connor ◽  
...  
Keyword(s):  
Caenorhabditis Elegans ◽  
Genetic Variants ◽  
Social Behaviour ◽  
Animal Studies ◽  
Model Organism ◽  
Autism Spectrum ◽  
C Elegans ◽  
Important Regulator ◽  
Human Mutation ◽  
The Impact

Abstract Autism spectrum disorder (ASD) is characterized by a triad of behavioural impairments including social behaviour. Neuroligin, a trans-synaptic adhesion molecule, has emerged as a penetrant genetic determinant of behavioural traits that signature the neuroatypical behaviours of autism. However, the function of neuroligin in social circuitry and the impact of genetic variation to this gene is not fully understood. Indeed, in animal studies designed to model autism, there remains controversy regarding the role of neuroligin dysfunction in the expression of disrupted social behaviours. The model organism, Caenorhabditis elegans, offers an informative experimental platform to investigate the impact of genetic variants on social behaviour. In a number of paradigms, it has been shown that inter-organismal communication by chemical cues regulates C. elegans social behaviour. We utilize this social behaviour to investigate the effect of autism-associated genetic variants within the social domain of the research domain criteria. We have identified neuroligin as an important regulator of social behaviour and segregate the importance of this gene to the recognition and/or processing of social cues. We also use CRISPR/Cas9 to edit an R-C mutation that mimics a highly penetrant human mutation associated with autism. C. elegans carrying this mutation phenocopy the behavioural dysfunction of a C. elegans neuroligin null mutant, thus confirming its significance in the regulation of animal social biology. This highlights that quantitative behaviour and precision genetic intervention can be used to manipulate discrete social circuits of the worm to provide further insight into complex social behaviour.

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