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Keesha L Roach, Patricia E Hershberger, Julienne N Rutherford, Robert E Molokie, Zaijie Jim Wang, Diana J Wilkie
Pain is the quintessential symptom for individuals suffering from sickle cell disease (SCD). Although the degree of suffering and the cost of treatment are staggering, SCD continues to be grossly understudied, including a lack of data for pain-related genes and prevalence of polymorphisms in this population. This lack of data adds to the inadequacy of pain therapy in this population. Pain genetics investigators have recently examined allele frequencies of single-nucleotide polymorphisms from candidate genes in people who have SCD...
March 1, 2018: Pain Management Nursing: Official Journal of the American Society of Pain Management Nurses
Ilaria Cataldo, Atiqah Azhari, Gianluca Esposito
Oxytocin ( OXT ) and arginine-vasopressin ( AVP ) play a key regulatory part in social and affiliative behaviors; two aspects highly compromised in Autism Spectrum Disorder (ASD). Furthermore, variants in the adjacent oxytocin-vasopressin gene regions have been found to be associated with ASD diagnosis and endophenotypes. This review focuses mainly on common OXTr single nucleotide polymorphisms (SNPs), AVPR1a microsatellites and AVPR1b polymorphisms in relation to the development of autism. Although these genes did not surface in genome-wide association studies, evidence supports the hypothesis that these receptors and their polymorphisms are widely involved in the regulation of social behavior, and in modulating neural and physiological pathways contributing to the etiology of ASD...
2018: Frontiers in Molecular Neuroscience
Marilin Ivask, Sander Pajusalu, Ene Reimann, Sulev Kõks
Wolfram syndrome is caused by mutations in the WFS1 gene. WFS1 protein dysfunction results in a range of neuroendocrine syndromes and is mostly characterized by juvenile-onset diabetes mellitus and optic atrophy. WFS1 has been shown to participate in membrane trafficking, protein processing and Ca2+ homeostasis in the endoplasmic reticulum. Aim of the present study was to find the transcriptomic changes influenced by WFS1 in the hypothalamus and hippocampus using RNA-sequencing. The WFS1-deficient mice were used as a model system to analyze the changes in transcriptional networks...
February 3, 2018: Neuroscience
Lauren J Albee, Heather M LaPorte, Xianlong Gao, Jonathan M Eby, You-Hong Cheng, Amanda M Nevins, Brian F Volkman, Vadim Gaponenko, Matthias Majetschak
Recent observations suggest that atypical chemokine receptor (ACKR)3 and chemokine (C-X-C motif) receptor (CXCR)4 regulate human vascular smooth muscle function through hetero-oligomerization with α1-adrenoceptors. Here, we show that ACKR3 also regulates arginine vasopressin receptor (AVPR)1A. We observed that ACKR3 agonists inhibit arginine vasopressin (aVP)-induced inositol trisphosphate (IP3) production in human vascular smooth muscle cells (hVSMCs) and antagonize aVP-mediated constriction of isolated arteries...
January 2018: Open Biology
Sabrina M Scroggins, Donna A Santillan, Jenna M Lund, Jeremy A Sandgren, Lindsay K Krotz, Wendy S Hamilton, Eric J Devor, Heather A Davis, Gary L Pierce, Katherine N Gibson-Corley, Curt D Sigmund, Justin L Grobe, Mark K Santillan
The pathogenesis of preeclampsia, a hypertensive disorder of pregnancy, involves imbalanced T helper (TH) cell populations and resultant changes in pro- and anti-inflammatory cytokine release. Elevated copeptin (an inert biomarker of arginine vasopressin (AVP)), secretion precedes the development of symptoms in preeclampsia in humans, and infusion of AVP proximal to and throughout gestation is sufficient to initiate cardiovascular and renal phenotypes of preeclampsia in wild-type C57BL/6J mice. We hypothesize that AVP infusion in wild-type mice is sufficient to induce the immune changes observed in human preeclampsia...
January 25, 2018: Clinical Science (1979-)
Phillip C Watts, Eva R Kallio, Esa Koskela, Eija Lonn, Tapio Mappes, Mikael Mokkonen
The loci arginine vasopressin receptor 1a (avpr1a) and oxytocin receptor (oxtr) have evolutionarily conserved roles in vertebrate social and sexual behaviour. Allelic variation at a microsatellite locus in the 5' regulatory region of these genes is associated with fitness in the bank vole Myodes glareolus Given the low frequency of long and short alleles at these microsatellite loci in wild bank voles, we used breeding trials to determine whether selection acts against long and short alleles. Female bank voles with intermediate length avpr1a alleles had the highest probability of breeding, while male voles whose avpr1a alleles were very different in length had reduced probability of breeding...
December 20, 2017: Proceedings. Biological Sciences
Alejandro Berrio, Rafael F Guerrero, Galina V Aglyamova, Mariam Okhovat, Mikhail V Matz, Steven M Phelps
Adaptive variation in social behaviour depends upon standing genetic variation, but we know little about how evolutionary forces shape genetic diversity relevant to brain and behaviour. In prairie voles (Microtus ochrogaster), variants at the Avpr1a locus predict expression of the vasopressin 1a receptor in the retrosplenial cortex (RSC), a brain region that mediates spatial and contextual memory; cortical V1aR abundance in turn predicts diversity in space use and sexual fidelity in the field. To examine the potential contributions of adaptive and neutral forces to variation at the Avpr1a locus, we explore sequence diversity at the Avpr1a locus and throughout the genome in two populations of wild prairie voles...
December 8, 2017: Molecular Ecology
Linda Koshy, S V Vijayalekshmi, S Harikrishnan, Kutty V Raman, V T Jissa, A Jayakumaran Nair, A Gangaprasad, G M Nair, P R Sudhakaran
Epigenetic regulation of arterial blood pressure mediated through mirSNPs in renin-angiotensin aldosterone system (RAAS) genes is a less explored hypothesis. Recently, the mirSNP rs11174811 in the 3'UTR of the AVPR1A gene was associated with higher arterial blood pressure in a large study population from the Study of Myocardial Infarctions Leiden (SMILE). The aim of the present study was to replicate the association of mirSNP rs11174811 with blood pressure outcomes and hypertension in a south Indian population...
November 28, 2017: Clinical and Experimental Hypertension: CHE
Xiudeng Yang, Yamei Tang, Qinling Wei, Bing Lang, Huai Tao, Xianghui Zhang, Yong Liu, Aiguo Tang
Schizophrenia (SZ) is a severe neuropsychiatric disorder with significant social cognition impairment. Increasing evidence has suggested that neuropeptides oxytocin (OXT) and arginine vasopressin (AVP) are important mediators of complex social cognition and behavior associates with SZ. In the present study, forty-three first-episode schizophrenia (FES) patients and forty-seven healthy controls (HC) were included. The peripheral mRNA expression of OXT, OXT receptor (OXTR), AVP, AVP 1a receptor (AVPR1a) and CD38 was determined by real-time quantitative polymerase chain reaction (RT-qPCR)...
October 3, 2017: Oncotarget
Virginia Meneghini Lazzari, Josi Maria Zimmermann-Peruzatto, Grasiela Agnes, Roberta Oriques Becker, Ana Carolina de Moura, Silvana Almeida, Renata Padilha Guedes, Marcia Giovenardi
Social interaction between animals is crucial for the survival and life in groups. It is well demonstrated that oxytocin (OT) and vasopressin (AVP) play critical roles in the regulation of social behaviors in mammals, however, other neurotransmitters and hormones are involved in the brain circuitry related to these behaviors. The present study aimed to investigate the gene expression of neurotransmitter receptors in the brain of OT knockout (OTKO) male mice. In this study, we evaluated the expression levels of the OT receptor (Oxtr), AVP receptors 1a and 1b (Avpr1a; Avpr1b), dopamine receptor 2 (Drd2), and the estrogen receptors alpha and beta (Esr1; Esr2) genes in the hippocampus (HPC), olfactory bulb (OB), hypothalamus (HPT) and prefrontal cortex (PFC)...
November 2, 2017: Behavioural Brain Research
Maria C Tickerhoof, Adam S Smith
The prairie vole (Microtus ochrogaster) is a socially monogamous rodent species that forms a lasting connection between mates, known as a pair bond. The pair bond is primarily characterized by three distinct behaviors: partner preference, selective aggression, and biparental care of the young. The presence of these behaviors in the prairie vole and their absence in closely related non-monogamous species makes the prairie vole an important model of social relationships and facilitates the study of the neurobiological mechanisms of social affiliation and attachment...
2017: Frontiers in Endocrinology
Marta Maria Nowacka-Chmielewska, Daniela Kasprowska-Liśkiewicz, Jarosław Jerzy Barski, Ewa Obuchowicz, Andrzej Małecki
The study aimed to test the hypotheses that chronic social instability stress (CSIS) alters behavioral and physiological parameters and expression of selected genes important for stress response and social behaviors. Adult female Sprague-Dawley rats were subjected to the 4-week CSIS procedure, which involves unpredictable rotation between phases of isolation and overcrowding. Behavioral analyses (Experiment 1) were performed on the same rats before and after CSIS (n = 16) and physiological and biochemical measurements (Experiment 2) were made on further control (CON; n = 7) and stressed groups (CSIS; n = 8)...
November 2017: Stress: the International Journal on the Biology of Stress
Carina Bodden, Daniel van den Hove, Klaus-Peter Lesch, Norbert Sachser
Both negative and positive social experiences during sensitive life phases profoundly shape brain and behaviour. Current research is therefore increasingly focusing on mechanisms mediating the interaction between varying life experiences and the epigenome. Here, male mice grew up under either adverse or beneficial conditions until adulthood, when they were subdivided into groups exposed to situations that either matched or mismatched previous conditions. It was investigated whether the resulting four life histories were associated with changes in anxiety-like behaviour, gene expression of selected genes involved in anxiety and stress circuits, and arginine vasopressin receptor 1a (Avpr1a) gene methylation...
August 18, 2017: Scientific Reports
So Young Yang, Soon Ae Kim, Gang Min Hur, Mira Park, Jong-Eun Park, Hee Jeong Yoo
BACKGROUND: Arginine vasopressin has been shown to affect social and emotional behaviors, which is mediated by the arginine vasopressin receptor (AVPR1A). Genetic polymorphisms in the AVPR1A promoter region have been identified to be associated with susceptibility to social deficits in autism spectrum disorder (ASD). We hypothesize that alleles of polymorphisms in the promoter region of AVPR1A may differentially interact with certain transcriptional factors, which in turn affect quantitative traits, such as sociality, in children with autism...
2017: Molecular Autism
Robert D Latzman, Steven J Schapiro, William D Hopkins
Vasopressin is a neuropeptide known to be associated with the development and evolution of complex socio-emotional behaviors including those relevant to psychopathic personality. In both humans and chimpanzees, recent research suggests a strong genetic contribution to individual variation in psychopathic traits. To date, however, little is known concerning specific genes that might explain the observed heritability of psychopathy. In a relatively large sample of captive chimpanzees (N = 164), the current study thus sought to investigate gene-environment associations between triarchic psychopathy dimensions (i...
2017: Frontiers in Neuroscience
Sofia Holmqvist Jämsen, Ada Johansson, Lars Westberg, Pekka Santtila, Bettina von der Pahlen, Susanna Simberg
Purpose: Oxytocin and arginine vasopressin are associated with different aspects of the stress response. As stress is regarded as a risk factor for vocal symptoms, we wanted to explore the association between the oxytocin receptor gene (OXTR) and arginine vasopressin 1A receptor gene (AVPR1A) single-nucleotide polymorphisms (SNPs) and vocal symptoms. We also wanted to explore whether such effects might be mediated by cortisol because oxytocin and vasopressin are associated with cortisol levels...
July 7, 2017: Journal of Speech, Language, and Hearing Research: JSLHR
M Okhovat, I C Chen, Z Dehghani, D J Zheng, J E Ikpatt, H Momoh, S M Phelps
Early experiences can have enduring impacts on brain and behavior, but the strength of these effects can be influenced by genetic variation. In principle, polymorphic CpGs (polyCpGs) may contribute to gene-by-environment interactions (GxE) by altering DNA methylation. In this study, we investigate the influence of polyCpGs on the development of vasopressin receptor 1a abundance in the retrosplenial cortex (RSC-V1aR) of prairie voles (Microtus ochrogaster). Two alternative alleles (HI/LO) predict RSC avpr1a expression, V1aR abundance and sexual fidelity in adulthood; these alleles differ in the frequency of CpG sites and in methylation at a putative intron enhancer...
June 7, 2017: Genes, Brain, and Behavior
Luiza Monteavaro Mariath, Alexandre Mauat da Silva, Thayne Woycinck Kowalski, Gustavo Schulz Gattino, Gustavo Andrade de Araujo, Felipe Grahl Figueiredo, Alice Tagliani-Ribeiro, Tatiana Roman, Fernanda Sales Luiz Vianna, Lavínia Schuler-Faccini, Jaqueline Bohrer Schuch
Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype...
April 2017: Genetics and Molecular Biology
Matthew Randesi, Orna Levran, Joel Correa da Rosa, Julia Hankins, Jody Rule, Mary Jeanne Kreek, William M Lee
BACKGROUND & AIMS: Acetaminophen-related acute liver injury and liver failure (ALF) result from ingestion of supratherapeutic quantities of this analgesic, frequently in association with other forms of substance abuse including alcohol, opioids, and cocaine. Thus, overdosing represents a unique high-risk behavior associated with other forms of drug use disorder. METHODS: We examined a series of 21 single nucleotide polymorphisms (SNPs) in 9 genes related to impulsivity and/or stress responsivity that may modify response to stress...
May 2017: Cellular and Molecular Gastroenterology and Hepatology
Eija Lonn, Esa Koskela, Tapio Mappes, Mikael Mokkonen, Angela M Sims, Phillip C Watts
Most variation in behavior has a genetic basis, but the processes determining the level of diversity at behavioral loci are largely unknown for natural populations. Expression of arginine vasopressin receptor 1a (Avpr1a) and oxytocin receptor (Oxtr) in specific regions of the brain regulates diverse social and reproductive behaviors in mammals, including humans. That these genes have important fitness consequences and that natural populations contain extensive diversity at these loci implies the action of balancing selection...
April 4, 2017: Proceedings of the National Academy of Sciences of the United States of America
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