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Esther Alhelí Hernández-Tobías, Luisa Torres-Sánchez, Gino Noris, Carla Santana, María Reyna Samano, José Arellano-Galindo, María de la Luz Arenas-Sordo, Daniel Brooks, Ana Lilia Rodríguez-Ventura, Marco Antonio Meraz-Ríos, Rocío Gómez
OBJECTIVE: We studied multi-loci variants to identify the contribution of six candidate genes (ADIPOQ, CDH13, LYPLAL1, MC4R, PPARG and PGC1A) in the development of obesity and overweight. DESIGN: We genotyped 404 chromosomes with eleven SNPs in Mexican female adolescents, who were subdivided into two groups (obesity-overweight and normal-weight) using the World Health Organization parameters. Genomic (800 chromosomes) and ancestral (208 chromosomes) controls were included to reduce the population bias...
October 20, 2016: Ethnicity & Disease
Sarah Abdullah, William Reginold, Courtney Kiss, Karen J Harrison, Jennifer J MacKenzie
Childhood obesity is a growing health concern, associated with significant physical and psychological morbidity. Childhood obesity is known to have a strong genetic component, with mutations in the melanocortin-4 receptor (MC4R) gene being the most common monogenetic cause of obesity. Over 166 different MC4R mutations have been identified in persons with hyperphagia, severe childhood obesity, and increased linear growth. However, it is unclear whether the MC4-R deficiency phenotype is due to haploinsufficiency or dominant-negative effects by the mutant receptor...
2016: Case Reports in Pediatrics
A M Obregón, K Oyarce, J L Santos, M Valladares, G Goldfield
Studies conducted in monozygotic and dizygotic twins have established a strong genetic component in eating behavior. Rare mutations and common variants of the melanocortin 4 receptor (MC4R) gene have been linked to obesity and eating behavior scores. However, few studies have assessed common variants in MC4R gene with the rewarding value of food in children. The objective of the study was to evaluate the association between the MC4R rs17782313 polymorphism with homeostatic and non-homeostatic eating behavior patterns in Chileans children...
October 11, 2016: Journal of Physiology and Biochemistry
Panpan You, Handan Hu, Yuting Chen, Yongliang Zhao, Yiqing Yang, Tongtong Wang, Roumei Xing, Yanjiao Shao, Wen Zhang, Dali Li, Huaqing Chen, Mingyao Liu
Melanocortin-3 and 4 receptors (MC3R and MC4R) can regulate energy homeostasis, but their respective roles especially the functions of MC3R need more exploration. Here Mc3r and Mc4r single and double knockout (DKO) rats were generated using CRISPR-Cas9 system. Metabolic phenotypes were examined and data were compared systematically. Mc3r KO rats displayed hypophagia and decreased body weight, while Mc4r KO and DKO exhibited hyperphagia and increased body weight. All three mutants showed increased white adipose tissue mass and adipocyte size...
October 7, 2016: Scientific Reports
B Paolini, P E Maltese, I Del Ciondolo, D Tavian, S Missaglia, C Ciuoli, M Zuntini, S Cecchin, M Bertelli, G Pompucci
Obesity is a major public health concern; despite evidence of high heritability, the genetic causes of obesity remain unclear. In this study, we assessed the presence of mutations in three genes involved in the hypothalamic leptin-melanocortin regulation pathway (leptin, LEP; leptin receptor, LEPR; and melanocortin-4 receptor, MC4R), which is important for energy homeostasis in the body, in a group of patients with severe obesity. For this study, we selected 77 patients who had undergone bariatric surgery and had a pre-operative body mass index (BMI) >35 kg/m(2), early onset and a family history of being overweight...
August 19, 2016: Genetics and Molecular Research: GMR
Agatha A van der Klaauw, Julia M Keogh, Elana Henning, Cheryl Stephenson, Sarah Kelway, Victoria M Trowse, Naresh Subramanian, Stephen O'Rahilly, Paul C Fletcher, I Sadaf Farooqi
Melanocortin-4-receptor (MC4R)-expressing neurons modulate food intake and preference in rodents but their role in human food preference is unknown. Here we show that compared with lean and weight-matched controls, MC4R deficient individuals exhibited a markedly increased preference for high fat, but a significantly reduced preference for high sucrose food. These effects mirror those in Mc4r null rodents and provide evidence for a central molecular circuit influencing human macronutrient preference.
October 4, 2016: Nature Communications
Zhi Song, Lingling Qiu, Zhongyang Hu, Jia Liu, Ding Liu, Deren Hou
BACKGROUND: Obesity is a well-established risk factor for large artery atherosclerotic (LAA) stroke. The aim of the study was to explore whether obesity genes, such as MC4R and FTO, contribute to LAA stroke risk in the Chinese Han population. METHODS: 322 LAA stroke patients and 473 controls were recruited. Gene polymorphism of MC4R (rs17782313) and FTO (rs8050136 and rs9939609) were genotyped. RESULTS: No differences were observed in genotype frequencies of variants of FTO (rs8050136 and rs9939609) or MC4R (rs17782313) between LAA stroke patients and control subjects...
October 5, 2016: Obesity Facts
Deniz Kirac, Ozgur Kasimay Cakir, Tuba Avcilar, Oguzhan Deyneli, Hizir Kurtel, Dilek Yazici, Elif Cigdem Kaspar, Nurgul Celik, Ahmet Ilter Guney
Obesity is a major contributory factor of morbidity and mortality. It has been suggested that biological systems may be involved in the tendency to be and to remain physically inactive also behaviors such as food and beverage preferences and nutrient intake may at least partially genetically determined. Consequently, besides environment, genetic factors may also contribute to the level of physical activity and eating behaviors thus effect obesity. Therefore the aim of this study is to investigate the effect of various gene mutations on obesity, physical activity levels and eating behavior phenotypes...
October 2016: IUBMB Life
Tao Tao Liu, Bao Wen Liu, Zhi Gang He, Li Feng, San Guang Liu, Hong Bing Xiang
To examine if brain neurons involved in the efferent control of the kidneys possess melanocortin-4 receptor (MC4-R) and/or tryptophan hydroxylase (TPH). Retrograde tracing pseudorabies virus (PRV)-614 was injected into the kidneys in adult male MC4R-green fluorescent protein (GFP) transgenic mice. After a survival time of 3-7 days, spinal cord and brain were removed and sectioned, and processed for PRV-614 visualization. The neurochemical phenotype of PRV-614-positive neurons was identified using double or triple immunocytochemical labeling against PRV-614, MC4R, or TPH...
September 10, 2016: Oncotarget
Evi Glas, Harald Mückter, Thomas Gudermann, Andreas Breit
Gs protein-coupled receptors regulate many vital body functions by activation of cAMP response elements (CRE) via cAMP-dependent kinase A (PKA)-mediated phosphorylation of the CRE binding protein (CREB). Melanocortin 4 receptors (MC4R) are prototypical Gs-coupled receptors that orchestrate the hypothalamic control of food-intake and metabolism. Remarkably, the significance of PKA for MC4R-induced CRE-dependent transcription in hypothalamic cells has not been rigorously interrogated yet. In two hypothalamic cell lines, we observed that blocking PKA activity had only weak or no effects on reporter gene expression...
2016: Scientific Reports
Raymond R MacNeil, Daniel J Müller
The effectiveness of antipsychotic drugs is limited due to accompanying adverse effects which can pose considerable health risks and lead to patient noncompliance. Pharmacogenetics (PGx) offers a means to identify genetic biomarkers that can predict individual susceptibility to antipsychotic-induced adverse effects (AAEs), thereby improving clinical outcomes. We reviewed the literature on the PGx of common AAEs from 2010 to 2015, placing emphasis on findings that have been independently replicated and which have additionally been listed to be of interest by PGx expert panels...
July 2016: Molecular Neuropsychiatry
A Leońska-Duniec, I I Ahmetov, P Zmijewski
Frequent and regular physical activity has significant benefits for health, including improvement of body composition and help in weight control. Consequently, promoting training programmes, particularly in those who are genetically predisposed, is a significant step towards controlling the presently increasing epidemic of obesity. Although the physiological responses of the human body to exercise are quite well described, the genetic background of these reactions still remains mostly unknown. This review not only summarizes the current evidence, through a literature review and the results of our studies on the influence of gene variants on the characteristics and range of the body's adaptive response to training, but also explores research organization problems, future trends, and possibilities...
September 2016: Biology of Sport
Julie-Ann P De Bond, Kristen P Tolson, Chanond Nasamran, Alexander S Kauffman, Jeremy T Smith
Kisspeptin controls reproduction by stimulating GnRH neurons via its receptor Kiss1r. Kiss1r is also expressed other brain areas and in peripheral tissues, suggesting additional non-reproductive roles. We recently determined that Kiss1r knockout (KO) mice develop an obese and diabetic phenotype. Here, we investigated whether Kiss1r KOs develop this metabolic phenotype due to alterations in the expression of metabolic genes involved in the appetite regulating system of the hypothalamus, including neuropeptide Y (Npy) and pro-opiomelanocortin (Pomc), as well as leptin receptor (Lepr), ghrelin receptor (Ghsr), and melanocortin receptor 3 and 4 (Mc3r, Mc4r)...
September 7, 2016: Journal of Neuroendocrinology
Mohammad Sarowar Hossain, Fuyuki Asano, Tomoyuki Fujiyama, Chika Miyoshi, Makito Sato, Aya Ikkyu, Satomi Kanno, Noriko Hotta, Miyo Kakizaki, Takato Honda, Staci J Kim, Haruna Komiya, Ikuo Miura, Tomohiro Suzuki, Kimio Kobayashi, Hideki Kaneda, Vivek Kumar, Joseph S Takahashi, Shigeharu Wakana, Hiromasa Funato, Masashi Yanagisawa
The discovery of leptin substantiated the usefulness of a forward genetic approach in elucidating the molecular network regulating energy metabolism. However, no successful dominant screening for obesity has been reported, which may be due to the influence of quantitative trait loci between the screening and counter strains and the low fertility of obese mice. Here, we performed a dominant screening for obesity using C57BL/6 substrains, C57BL/6J and C57BL/6N, with the routine use of in vitro fertilization. The screening of more than 5000 mutagenized mice established two obese pedigrees in which single nucleotide substitutions in Mc4r and Sim1 genes were identified through whole-exome sequencing...
2016: Scientific Reports
Eun Jin Kwon, Hye Ah Lee, Young-Ah You, Hyesook Park, Su Jin Cho, Eun Hee Ha, Young Ju Kim
The association of preterm birth with obesity and metabolic syndrome later in life is well established. Although the biological mechanism for this association is poorly understood, epigenetic alterations of metabolic-related genes in early life may have important roles in metabolic dysfunction. Thus, we investigated the associations of DNA methylations of melanocortin 4 receptor (MC4R) and hepatocyte nuclear factor 4 alpha (HNF4α) with metabolic profiles in cord blood of term and preterm infants.We measured metabolic profiles in cord blood samples of 85 term and 85 preterm infants...
August 2016: Medicine (Baltimore)
Fabio Lauria, Alfonso Siani, Catalina Picó, Wolfgang Ahrens, Karin Bammann, Stefaan De Henauw, Ronja Foraita, Licia Iacoviello, Yiannis Kourides, Staffan Marild, Denes Molnar, Luis A Moreno, Yannis Pitsiladis, Juana Sánchez, Toomas Veidebaum, Guan Wang, Paola Russo
CONTEXT: The melanocortin-4 receptor gene (MC4R) plays a pivotal role in the regulation of body fat and food and energy intake. OBJECTIVES: To evaluate the association 1) of variants rs17782313 and rs17700633 nearby the coding region of MC4R and 2) of the transcript levels of MC4R with adiposity indices and percentage of energy from fat, carbohydrates and protein in children. DESIGN: The IDEFICS cohort was used, with examinations at baseline (T0) and after 2 years (T1)...
September 1, 2016: Journal of Clinical Endocrinology and Metabolism
H Y Tan, F J Steyn, L Huang, M Cowley, J D Veldhuis, C Chen
KEY POINTS: Loss of function of the melanocortin 4 receptor (MC4R) results in hyperphagia, obesity and increased growth. Despite knowing that MC4Rs control food intake, we are yet to understand why defects in the function of the MC4R receptor contribute to rapid linear growth. We show that hyperphagia following germline loss of MC4R in male mice promotes growth while suppressing the growth hormone-insulin-like growth factor-1 (GH-IGF-1) axis. We propose that hyperinsulinaemia promotes growth while suppressing the GH-IGF-1 axis...
August 25, 2016: Journal of Physiology
Jeanne M McCaffery, Kathleen A Jablonski, Paul W Franks, Linda M Delahanty, Vanita Aroda, David Marrero, Richard F Hamman, Edward S Horton, Samuel Dagogo-Jack, Judith Wylie-Rosett, Elizabeth Barrett-Connor, Abbas Kitabchi, William C Knowler, Rena R Wing, Jose C Florez
OBJECTIVES: Genomewide association studies (GWAS) have identified consistent associations with obesity, with a number of studies implicating eating behavior as a primary mechanism. Few studies have replicated genetic associations with dietary intake. This study evaluates the association between obesity susceptibility loci and dietary intake. METHODS: Data were obtained as part of the Diabetes Prevention Program (DPP), a clinical trial of diabetes prevention in persons at high risk of diabetes...
August 20, 2016: Psychosomatic Medicine
Anne Müller, Lars Niederstadt, Wenke Jonas, Chun-Xia Yi, Franziska Meyer, Petra Wiedmer, Jana Fischer, Carsten Grötzinger, Annette Schürmann, Matthias Tschöp, Gunnar Kleinau, Annette Grüters, Heiko Krude, Heike Biebermann
Intact melanocortin signaling via the G protein-coupled receptors (GPCRs), melanocortin receptor 4 (MC4R), and melanocortin receptor 3 (MC3R) is crucial for body weight maintenance. So far, no connection between melanocortin signaling and hypothalamic inflammation has been reported. Using a bimolecular fluorescence complementation library screen, we identified a new interaction partner for these receptors, ring finger protein 11 (RNF11). RNF11 participates in the constitution of the A20 complex that is involved in reduction of tumor necrosis factor α (TNFα)-induced NFκB signaling, an important pathway in hypothalamic inflammation...
2016: Frontiers in Endocrinology
Frank T Spradley, Jennifer M Sasser, Jacqueline B Musall, Jennifer C Sullivan, Joey P Granger
Although obesity increases the risk for hypertension in pregnancy, the mechanisms responsible are unknown. Increased nitric oxide (NO) production results in vasodilation and reduced blood pressure during normal pregnancy in lean rats; however, the role of NO is less clear during obese pregnancies. We examined the impact of obesity on NO synthase (NOS)-mediated regulation of blood pressure during pregnancy by testing the hypothesis that NOS activity, expression and regulation of vascular tone and blood pressure are reduced in obese pregnant rats...
August 17, 2016: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
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