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obesity and genetic mutations

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https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#1
Siqian Gong, Jiandong Guo, Xueyao Han, Meng Li, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai Zhou, Yumin Ma, Linong Ji
Context: A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was recently reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. Mutations in SLC5A2 and HNF1A are associated with renal glycosuria, but their contributions to renal glycosuria in patients with T2DM are not well understood. Objective: To assess the clinical features of T2DM patients with renal glycosuria and those with low urinary glucose excretion (LUGE) and identify variants in the coding regions of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
January 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28272210/alstr%C3%A3-m-syndrome-a-novel-mutation-in-saudi-girl-with-insulin-resistant-diabetes
#2
Ayman A Bakar, Naglaa Mohamed Kamal, Abdulaziz Alsaedi, Reem Turkistani, Dima Aldosari
RATIONALE: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS: Alström syndrome. INTERVENTIONS: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28271632/the-role-of-insufficient-copper-in-lipid-synthesis-and-fatty-liver-disease
#3
REVIEW
Austin Morrell, Savannah Tallino, Lei Yu, Jason L Burkhead
The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier...
March 8, 2017: IUBMB Life
https://www.readbyqxmd.com/read/28243972/genetic-interaction-of-dgat2-and-faah-in-the-development-of-human-obesity
#4
Tinglu Ning, Yaoyu Zou, Minglan Yang, Qianqian Lu, Maopei Chen, Wen Liu, Shaoqian Zhao, Yingkai Sun, Juan Shi, Qinyun Ma, Jie Hong, Ruixin Liu, Jiqiu Wang, Guang Ning
PURPOSE: DGAT2 is the critical catalyzing enzyme for triglyceride biosynthesis, and excess triglyceride accumulation in fat tissues is a fundamental process for obesity. Mutations in DGAT2 or other genes interacting with DGAT2 associated with adiposity have not been reported in human to date. METHODS: DGAT2 mutation was identified based on our in-home database-exome sequencing 227 young obese subjects (body-mass index (BMI), 35.1-61.7 kg/m(2)) and 219 lean controls (BMI, 17...
February 27, 2017: Endocrine
https://www.readbyqxmd.com/read/28213398/foxo-integration-of-insulin-signaling-with-glucose-and-lipid-metabolism
#5
Sojin Lee, Henry H Dong
The forkhead box O family consists of FoxO1, FoxO3, FoxO4 and FoxO6 proteins in mammals. Expressed ubiquitously in the body, the four FoxO isoforms share in common the amino DNA binding domain, known as "forkhead box" domain. They mediate the inhibitory action of insulin or insulin-like growth factor on key functions involved in cell metabolism, growth, differentiation, oxidative stress, senescence, autophagy and aging. Genetic mutations in FoxO genes or abnormal expression of FoxO proteins are associated with metabolic disease, cancer or altered lifespan in humans and animals...
February 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#6
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28176381/the-canine-pomc-gene-obesity-in-labrador-retrievers-and-susceptibility-to-diabetes-mellitus
#7
L J Davison, A Holder, B Catchpole, C A O'Callaghan
BACKGROUND: Diabetes mellitus (DM) in dogs is a common endocrinopathy with a complex genetic architecture. Disease susceptibility in several breeds is associated with polymorphisms in immune response genes, but in the Labrador retriever breed, no genetic associations with DM have been identified. A deletion in the pro-opiomelanocortin (POMC) gene in Labrador retrievers is associated with increased appetite and risk of obesity. HYPOTHESIS/OBJECTIVES: To characterize the POMC deletion in Labrador retrievers, to develop a simple genetic test for this mutation, and to test the hypothesis that the POMC gene deletion is associated with an increased risk of DM in this breed...
March 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28164453/the-circadian-clock-metabolism-and-obesity
#8
REVIEW
U Albrecht
In the last decades, obesity has been on the rise becoming a burden for health care systems. The reasons behind this rise are most likely caused by lifestyle rather than by an increase in gene mutations, because manifestations of genetic alterations would take longer than just a few decades. Lifestyle has a great impact on the circadian system and therefore on the body internal organization of physiological and biochemical processes, regulating various aspects of behavior and metabolism. In the following, I will discuss recent studies delineating relationships between metabolic processes and the circadian system, how metabolites and nutrients regulate the circadian clock and how nuclear receptors can act as metabolic sensors and clock regulators...
February 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#9
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28132390/impact-of-self-reported-data-on-the-acquisition-of-multi-generational-family-history-and-lifestyle-factors-among-women-seen-in-a-high-risk-breast-screening-program-a-focus-on-modifiable-risk-factors-and-genetic-referral
#10
Laura H Rosenberger, Ryan Weber, Daniel Sjoberg, Andrew J Vickers, Debra A Mangino, Monica Morrow, Melissa L Pilewskie
BACKGROUND: The phrase "high-risk for breast cancer" is used to identify various groups at elevated cancer risk, and the appropriate surveillance and risk-reducing strategies differ based on the etiology of risk. Here, we review the utility of patient-reported data to capture women with modifiable lifestyle risk factors and those suitable for genetic counseling referral. METHODS: Patient-reported data from a web-based survey were used to capture personal history, multi-generational family history, and lifestyle factors (body mass index, alcohol consumption, physical activity)...
April 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28115523/apoc3-protein-is-not-a-predisposing-factor-for-fat-induced-nonalcoholic-fatty-liver-disease-in-mice
#11
Xiaoyun Cheng, Jun Yamauchi, Sojin Lee, Ting Zhang, Zhenwei Gong, Radhika Muzumdar, Shen Qu, H Henry Dong
Nonalcoholic fatty liver disease (NAFLD), characterized by excessive fat accumulation in liver, is prevalent in obesity. Genetic factors that link obesity to NAFLD remain obscure. Apolipoprotein C3 (APOC3) is a lipid-binding protein with a pivotal role in triglyceride metabolism. Humans with APOC3 gain-of-function mutations and mice with APOC3 overproduction are associated with hypertriglyceridemia. Nonetheless, it remains controversial whether APOC3 is culpable for diet-induced NAFLD. To address this fundamental issue, we fed APOC3-transgenic and wild-type littermates a high fructose diet or high fat diet, followed by determination of the effect of APOC3 on hepatic lipid metabolism and inflammation and the progression of NAFLD...
March 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28107248/how-mice-are-indispensable-for-understanding-obesity-and-diabetes-genetics
#12
Alan D Attie, Gary A Churchill, Joseph H Nadeau
PURPOSE OF REVIEW: The task of cataloging human genetic variation and its relation to disease is rapidly approaching completion. The new challenge is to discover the function of disease-associated genes and to understand the pathways that lead to human disease. We propose that achieving this new level of understanding will increasingly rely on the use of model organisms. We discuss the advantages of the mouse as a model organism. RECENT FINDINGS: The collection of available mouse strains represents as much genetic and phenotype variation as is found in the human population...
January 19, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/28067456/association-of-type-2-diabetes-mellitus-with-the-interaction-between-low-density-lipoprotein-receptor-related-protein-5-lrp5-polymorphisms-and-overweight-and-obesity-in-rural-chinese-adults
#13
Lu Zhang, Jinjin Wang, Ming Zhang, Guo'an Wang, Yanxia Shen, Dongting Wu, Chongjian Wang, Linlin Li, Yongcheng Ren, Bingyuan Wang, Hongyan Zhang, Xiangyu Yang, Yang Zhao, Chengyi Han, Junmei Zhou, Chao Pang, Lei Yin, Jingzhi Zhao, Xinping Luo, Dongsheng Hu
BACKGROUND: Low-density lipoprotein receptor-related protein 5 (LRP5) plays an important role in glucose and cholesterol metabolism. The present cohort study evaluated associations of LRP5 variants with the incidence of type 2 diabetes mellitus (T2DM) in a rural adult Chinese population. METHODS: In all, 7751 subjects aged ≥18 years without T2DM underwent genotyping at baseline; 6326 subjects (81.62%) were followed-up, and 5511 with a clear disease outcome were eligible for analysis...
January 9, 2017: Journal of Diabetes
https://www.readbyqxmd.com/read/28055140/eif2s3-mutations-associated-with-severe-x-linked-intellectual-disability-syndrome-mehmo
#14
Martina Skopkova, Friederike Hennig, Byung-Sik Shin, Clesson E Turner, Daniela Stanikova, Katarina Brennerova, Juraj Stanik, Ute Fischer, Lyndal Henden, Ulrich Müller, Daniela Steinberger, Esther Leshinsky-Silver, Armand Bottani, Timea Kurdiova, Jozef Ukropec, Olga Nyitrayova, Miriam Kolnikova, Iwar Klimes, Guntram Borck, Melanie Bahlo, Stefan A Haas, Joo-Ran Kim, Leda E Lotspeich-Cole, Daniela Gasperikova, Thomas E Dever, Vera M Kalscheuer
Impairment of translation initiation and its regulation within the integrated stress response (ISR) and related unfolded-protein response has been identified as a cause of several multisystemic syndromes. Here, we link MEHMO syndrome, whose genetic etiology was unknown, to this group of disorders. MEHMO is a rare X-linked syndrome characterized by profound intellectual disability, epilepsy, hypogonadism and hypogenitalism, microcephaly, and obesity. We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c...
April 2017: Human Mutation
https://www.readbyqxmd.com/read/27994193/association-and-expression-analyses-of-the-ucp2-and-ucp3-gene-polymorphisms-with-body-measurement-and-meat-quality-traits-in-qinchuan-cattle
#15
Yaning Wang, Wucai Yang, Linsheng Gui, Hongbao Wang, Linsen Zan
The uncoupling proteins (UCPs) belong to the mitochondrial inner membrane anion carrier superfamily and play an important role in energy homeostasis. Genetic studies have demonstrated that Ucp2 and Ucp3 gene variants are involved in obesity and metabolic syndrome. The aim of this study was to identify associations between polymorphisms of Ucp2 and Ucp3 genes and economically-important traits in Qinchuan cattle. In the present study, one single-nucleotide polymorphism (SNP) in the 5'UTR region (SNP1:g.C-754G) of the Ucp2 gene was identified by direct sequencing of 441 Qinchuan cattle...
December 2016: Journal of Genetics
https://www.readbyqxmd.com/read/27981356/chronomedicine-and-type-2-diabetes-shining-some-light-on-melatonin
#16
REVIEW
Andrew C Forrestel, Susanne U Miedlich, Michael Yurcheshen, Steven D Wittlin, Michael T Sellix
In mammals, the circadian timing system drives rhythms of physiology and behaviour, including the daily rhythms of feeding and activity. The timing system coordinates temporal variation in the biochemical landscape with changes in nutrient intake in order to optimise energy balance and maintain metabolic homeostasis. Circadian disruption (e.g. as a result of shift work or jet lag) can disturb this continuity and increase the risk of cardiometabolic disease. Obesity and metabolic disease can also disturb the timing and amplitude of the clock in multiple organ systems, further exacerbating disease progression...
December 16, 2016: Diabetologia
https://www.readbyqxmd.com/read/27939373/molecular-classification-of-hepatocellular-adenoma-associates%C3%A2-with-risk-factors-bleeding-and-malignant-transformation
#17
Jean Charles Nault, Gabrielle Couchy, Charles Balabaud, Guillaume Morcrette, Stefano Caruso, Jean-Frederic Blanc, Yannick Bacq, Julien Calderaro, Valérie Paradis, Jeanne Ramos, Jean-Yves Scoazec, Viviane Gnemmi, Nathalie Sturm, Catherine Guettier, Monique Fabre, Eric Savier, Laurence Chiche, Philippe Labrune, Janick Selves, Dominique Wendum, Camilla Pilati, Alexis Laurent, Anne De Muret, Brigitte Le Bail, Sandra Rebouissou, Sandrine Imbeaud, Paulette Bioulac-Sage, Eric Letouzé, Jessica Zucman-Rossi
BACKGROUND & AIMS: Hepatocellular adenomas (HCAs) are benign liver tumors that can be assigned to molecular subtypes based on inactivating mutations in hepatocyte nuclear factor 1A, activating mutations in β-catenin, or activation of inflammatory signaling pathways. We aimed to update the classification system for HCA and associate the subtypes with disease risk factors and complications. METHODS: We analyzed expression levels of 20 genes and sequenced exon regions of 8 genes (HNF1A, IL6ST, CTNNB1, FRK, STAT3, GNAS, JAK1, and TERT) in 607 samples of 533 HCAs from 411 patients, collected from 28 centers mainly in France from 2000 and 2014...
December 7, 2016: Gastroenterology
https://www.readbyqxmd.com/read/27913448/targeting-inflammation-in-cancer-prevention-and-therapy
#18
REVIEW
Jelena Todoric, Laura Antonucci, Michael Karin
Inflammation is associated with the development and malignant progression of most cancers. As most of the cell types involved in cancer-associated inflammation are genetically stable and thus are not subjected to rapid emergence of drug resistance, the targeting of inflammation represents an attractive strategy both for cancer prevention and for cancer therapy. Tumor-extrinsic inflammation is caused by many factors, including bacterial and viral infections, autoimmune diseases, obesity, tobacco smoking, asbestos exposure, and excessive alcohol consumption, all of which increase cancer risk and stimulate malignant progression...
December 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/27885704/effects-of-genetic-variations-in-the-genes-encoding-nod1-and-nod2-on-type-2-diabetes-mellitus-and-insulin-resistance
#19
C Ozbayer, H Kurt, M N Kebapci, H V Gunes, E Colak, I Degirmenci
WHAT IS KNOWN AND OBJECTIVE: Nucleotide-binding oligomerization domain (NOD) 1 and NOD 2 are members of the NOD-like receptor (NLR) family and contain a caspase recruitment domain. NLRs are located in the cytosol, bind bacterial and viral ligands and play a key role in the realization of innate and adaptive immune response, inflammation, apoptosis and reactive oxygen species generation. Insulin resistance (IR) is a leading cause of type 2 diabetes mellitus (T2DM) and associated with obesity, inflammation and pro-inflammatory responses...
February 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/27871293/genetic-and-epigenetic-alterations-in-the-gnas-locus-and-clinical-consequences-in-pseudohypoparathyroidism-italian-common-healthcare-pathways-adoption
#20
L de Sanctis, F Giachero, G Mantovani, G Weber, M Salerno, G I Baroncelli, M F Elli, P Matarazzo, M Wasniewska, L Mazzanti, G Scirè, D Tessaris
BACKGROUND: Genetic and epigenetic alterations in the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP) type Ia/c and Ib, respectively. For these heterogeneous diseases characterized by multiple hormone resistances and Albright's Hereditary Osteodystrophy (AHO) the current classification results inadequate because of the clinical overlap between molecular subtypes and a standard clinical approach is still missing. In the present paper several members of the Study Group Endocrine diseases due to altered function of Gsα protein of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED) have reviewed and updated the clinical-molecular data of the largest case series of (epi)/genetically characterized AHO/PHP patients; they then produced a common healthcare pathway for patients with these disorders...
November 21, 2016: Italian Journal of Pediatrics
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