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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/27921426/-gestational-diabetes-mellitus
#1
Hana Krejčí
The present generation of women of childbearing age more frequently suffer from overweight, obesity, initial as well as fully established metabolic syndrome, which together with postponing motherhood until the third decade in life plays an important role in the increasing incidence of gestational diabetes (GDM) that currently affects about 1/5 of pregnant women. However the causal link between diabetes during pregnancy and metabolic diseases in the whole population is mutual. By way of epigenetic changes, maternal diabetes unfavourably programmes metabolism of the offspring, who tend to transfer the disorder to the next generations...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921049/metabolic-syndrome-in-children-and-adolescents
#2
REVIEW
Christine Graf, Nina Ferrari
BACKGROUND: Juvenile obesity is associated with multiple cardiometabolic comorbidities, which may culminate in the metabolic syndrome (MetS). METHODS: Based on a narrative review, the current knowledge of prevalence and the underlying metabolic principles regarding juvenile obesity and MetS are summarized to compile up-to-date information. In addition, the role of lifestyle as well as positive and negative influencing factors are focused on. RESULTS: The prevalence of MetS occurs between 1 and up to 23% in the total pediatric population and in up to 60% amongst the obese and overweight...
October 2016: Visceral Medicine
https://www.readbyqxmd.com/read/27921043/metabolic-vascular-syndrome-new-insights-into-a-multidimensional-network-of-risk-factors-and-diseases
#3
REVIEW
Gerhard H Scholz, Markolf Hanefeld
BACKGROUND: Since 1981, we have used the term metabolic syndrome to describe an association of a dysregulation in lipid metabolism (high triglycerides, low high-density lipoprotein cholesterol, disturbed glucose homeostasis (enhanced fasting and/or prandial glucose), gout, and hypertension), with android obesity being based on a common soil (overnutrition, reduced physical activity, sociocultural factors, and genetic predisposition). We hypothesized that main traits of the syndrome occur early and are tightly connected with hyperinsulinemia/insulin resistance, procoagulation, and cardiovascular diseases...
October 2016: Visceral Medicine
https://www.readbyqxmd.com/read/27919260/a-frameshift-mutation-in-mocos-is-associated-with-familial-renal-syndrome-xanthinuria-in-tyrolean-grey-cattle
#4
Leonardo Murgiano, Vidhya Jagannathan, Christian Piffer, Inmaculada Diez-Prieto, Marilena Bolcato, Arcangelo Gentile, Cord Drögemüller
BACKGROUND: Renal syndromes are occasionally reported in domestic animals. Two identical twin Tyrolean Grey calves exhibited weight loss, skeletal abnormalities and delayed development associated with kidney abnormalities and formation of uroliths. These signs resembled inherited renal tubular dysplasia found in Japanese Black cattle which is associated with mutations in the claudin 16 gene. Despite demonstrating striking phenotypic similarities, no obvious presence of pathogenic variants of this candidate gene were found...
December 5, 2016: BMC Veterinary Research
https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#5
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27908400/low-hepatic-copper-content-and-pnpla3-polymorphism-in-non-alcoholic-fatty-liver-disease-in-patients-without-metabolic-syndrome
#6
Albert Friedrich Stättermayer, Stefan Traussnigg, Elmar Aigner, Christian Kienbacher, Ursula Huber-Schönauer, Petra Steindl-Munda, Andreas Stadlmayr, Friedrich Wrba, Michael Trauner, Christian Datz, Peter Ferenci
INTRODUCTION: The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is multifactorial including metabolic, genetic (e.g. PNPLA3 [patatin-like phospholipase domain-containing 3 gene]), viral factors and drugs. Besides, there is evidence for a role of copper deficiency. Aim of the study was to evaluate the role of hepatic copper content, PNPLA3 in NAFLD patients with and without metabolic syndrome (MetS). METHODS: One-hundred seventy-four NAFLD patients, who underwent liver biopsy for diagnostic work-up, were studied...
January 2017: Journal of Trace Elements in Medicine and Biology
https://www.readbyqxmd.com/read/27906866/inherited-and-acquired-disorders-of-magnesium-homeostasis
#7
Matthias Tilmann Florian Wolf
PURPOSE OF REVIEW: Magnesium (Mg) imbalances are frequently overlooked. Hypermagnesemia usually occurs in preeclamptic women after Mg therapy or in end-stage renal disease patients, whereas hypomagnesemia is more common with a prevalence of up to 15% in the general population. Increasing evidence points toward a role for mild-to-moderate chronic hypomagnesemia in the pathogenesis of hypertension, type 2 diabetes mellitus, and metabolic syndrome. RECENT FINDINGS: The kidneys are the major regulator of total body Mg homeostasis...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27906711/polycystic-ovary-syndrome-in-adolescent-girls
#8
Natalie Hecht Baldauff, Selma Feldman Witchel
PURPOSE OF REVIEW: Polycystic ovary syndrome (PCOS) is a common heterogeneous disorder that appears to have its origins during the peripubertal years. The diagnostic conundrum is that the typical clinical features, irregular menses and acne, occur during normal female puberty. Understanding the physiologic origins and molecular basis of the dysregulated hypothalamic-pituitary-gonadal axis in PCOS is fundamental to interrupting the distinctive vicious cycle of hyperandrogenism and chronic anovulation...
November 30, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27901076/prevalence-of-metabolic-syndrome-and-its-risk-factors-among-rural-adults-in-nantong-china
#9
Jing Xiao, Chuan-Li Wu, Yue-Xia Gao, Shu-Lan Wang, Lei Wang, Qing-Yun Lu, Xiao-Jian Wang, Tian-Qi Hua, Huan Shen, Hui Cai
The prevalence of metabolic syndrome (MS) varies worldwide due to genetic and environmental factors. A population-based cross-sectional study, with 37,582 participants recruited in Nantong, China in 2007-2008 (stage I) and 2013 (stage II). Socio-demographic, lifestyle factors, disease history and fasting blood sample were collected. The prevalence of MS was much higher in 2013 (42.6%) than that in 2007-2008 (21.6%), which was significantly higher in older people in both stages. Participants with two or more familial history of diseases were associated with a higher MS prevalence compared to those who didn't have familial history of diseases...
November 30, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27899484/lack-of-cul4b-in-adipocytes-promotes-ppar%C3%AE-mediated-adipose-tissue-expansion-and-insulin-sensitivity
#10
Peishan Li, Yu Song, Wenying Zan, Liping Qin, Shuang Han, Baichun Jiang, Hao Dou, Changshun Shao, Yaoqin Gong
Obesity and obesity-associated diseases are linked to dysregulation of peroxisome proliferator-activated receptor γ (PPARγ) signaling pathway. Identification of the factors that regulate PPARγ expression and activity is crucial for combating obesity. However, the ubiquitin E3 ligases that target PPARγ for proteasomal degradation have been rarely identified and their functions in vivo have not been characterized. Here we report that CUL4B-RING E3 ligase (CRL4B) negatively regulates PPARγ by promoting its polyubiquitination and proteasomal degradation...
November 29, 2016: Diabetes
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#11
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27898589/growth-in-patients-with-type-1-diabetes
#12
Deborah M Mitchell
PURPOSE OF REVIEW: As the incidence of type 1 diabetes (T1DM) continues to rise, complications including impairment of childhood growth remain a major concern. This review provides an overview of alterations in growth patterns before and after the onset of T1DM. RECENT FINDINGS: Recent advances in this field include several prospective investigations of height and weight trajectories in children leading up to the development of islet autoimmunity and T1DM as well as evaluations of larger cohorts of T1DM patients to better assess predictors of altered growth...
November 24, 2016: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/27894792/pyruvate-dehydrogenase-e1%C3%AE-deficiency-presenting-as-recurrent-acute-proximal-muscle-weakness-of-upper-and-lower-extremities-in-an-8-year-old-boy
#13
Bülent Kara, Hülya Maraş Genç, Emek Uyur-Yalçın, Ayfer Sakarya-Güneş, Uğur Topçu, Serap Mülayim, Serdar Ceylaner
The mitochondrial pyruvate dehydrogenase enzyme complex (PDHC) plays an important role in aerobic energy metabolism and acid-base equilibrium. PDHC contains of 5 enzymes, 3 catalytic (E1, E2, E3) and 2 regulatory, as well as 3 cofactors and an additional protein (E3-binding protein) encoded by nuclear genes. The clinical presentation of PDHC deficiency ranges from fatal neonatal lactic acidosis to chronic neurologic dysfunction without lactic acidosis. Paroxysmal neurologic problems such as intermittent ataxia, episodic weakness, exercise-induced dystonia and recurrent demyelination may also be seen although they are rare...
November 9, 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27889578/molecular-neurobiology-of-mtor
#14
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons. Changes in mTOR activity are often observed in nervous system diseases, including genetic diseases (e...
November 23, 2016: Neuroscience
https://www.readbyqxmd.com/read/27889190/diagnosis-of-multiple-sclerosis-progress-and-challenges
#15
REVIEW
Wallace J Brownlee, Todd A Hardy, Franz Fazekas, David H Miller
The diagnosis of multiple sclerosis is based on neurological symptoms and signs, alongside evidence of dissemination of CNS lesions in space and time. MRI is often sufficient to confirm the diagnosis when characteristic lesions accompany a typical clinical syndrome, but in some patients, further supportive information is obtained from cerebrospinal fluid examination and neurophysiological testing. Differentiation is important from other diseases in which demyelination is a feature (eg, neuromyelitis optica spectrum disorder and acute disseminated encephalomyelitis) and from non-demyelinating disorders such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic, and genetic causes that can mimic multiple sclerosis...
November 23, 2016: Lancet
https://www.readbyqxmd.com/read/27885915/effect-of-an-snp-in-scap-gene-on-lipid-lowering-response-to-rosuvastatin-in-indian-patients-with-metabolic-syndrome
#16
Misbahuddin M Rafeeq, Farida Ahmad, Syed Z Rahman, Sheelu S Siddiqi, Shazi Shakeel
AIM: Statins treat dyslipidemia associated with metabolic syndrome. Genetic factors contribute to variable response. Sterol regulatory element-binding factors cleavage-activating protein (SCAP) pathway regulates lipid homeostasis, so effect of SNP in SCAP gene on rosuvastatin response was studied. MATERIALS & METHODS: Metabolic syndrome patients with low-density lipoprotein-cholesterol ≥130 mg/dl, were prescribed rosuvastatin 5 mg for 3 months. Lipids were measured initially and finally, and genotyping done...
November 25, 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27884961/therapeutic-silencing-of-fat-specific-protein-27-improves-glycemic-control-in-mouse-models-of-obesity-and-insulin-resistance
#17
Cédric Langhi, Noemí Arias, Ananthi Rajamoorthi, Jeannine Basta, Richard G Lee, Ángel Baldán
Obesity is a component of the metabolic syndrome, mechanistically linked to diabetes, fatty liver disease, and cardiovascular disease. Proteins that regulate the metabolic fate of intracellular lipid droplets are potential therapeutic candidates to treat obesity and its related consequences. CIDEC (cell death-inducing DFFA-like effector C), also known in mice as Fsp27 (fat-specific protein 27), is a lipid droplet-associated protein that prevents lipid mobilization and promotes intracellular lipid storage. The consequences of complete loss of FSP27 on hepatic metabolism and on insulin resistance are controversial, as both healthy and deleterious lipodystrophic phenotypes have been reported in Fsp27-/- mice...
November 24, 2016: Journal of Lipid Research
https://www.readbyqxmd.com/read/27878529/association-between-copy-number-variation-on-metabolic-phenotypes-and-hdl-c-levels-in-patients-with-polycystic-ovary-syndrome
#18
Birgit Knebel, Stefan Lehr, Onno E Janssen, Susanne Hahn, Sylvia Jacob, Ulrike Nitzgen, Dirk Müller-Wieland, Jorg Kotzka
Polygenic diseases with a broad phenotypic spectrum, such as polycystic ovary syndrome (PCOS), present a particular challenge in terms of identifying the underlying genetic mechanisms, nevertheless genetic variants have impact on the individual phenotype. We aimed to determine if next to genetic variations like SNPs further mechanisms might play a role in the pathogenesis of PCOS. We examined the effect of copy-number variations (CNVs) on metabolic phenotypes in PCOS. The intragenic rs1244979, rs2815752 in NEGR1 gene, and rs780094 in GCKR gene were genotyped and CNVs were determined by droplet digital polymerase chain reaction (ddPCR) in PCOS patients (n = 153) and controls without metabolic syndrome (n = 142)...
November 22, 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27877090/genetic-variant-in-flavin-containing-monooxygenase-3-alters-lipid-metabolism-in-laying-hens-in-a-diet-specific-manner
#19
Jing Wang, Cheng Long, Haijun Zhang, Yanan Zhang, Hao Wang, Hongyuan Yue, Xiaocui Wang, Shugeng Wu, Guanghai Qi
Genetic variant T329S in flavin-containing monooxygenase 3 (FMO3) impairs trimethylamine (TMA) metabolism in birds. The TMA metabolism that under complex genetic and dietary regulation, closely linked to cardiovascular disease risk. We determined whether the genetic defects in TMA metabolism may change other metabolic traits in birds, determined whether the genetic effects depend on diets, and to identify genes or gene pathways that underlie the metabolic alteration induced by genetic and diet factors. We used hens genotyped as FMO3 c...
2016: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/27872154/genetic-determinants-of-myocardial-dysfunction
#20
REVIEW
Xianchi Li, Peiying Zhang
Heart failure (HF) is a major killer with high morbidity and mortality and nearly 37.7 million people are affected by HF globally, making this a global epidemic. HF is a complex pathophysiological syndrome in which the mechanical function of heart for pumping blood is compromised. Cardiac structural and functional abnormalities culminate in decreased cardiac output along with increased intracardiac pressures under resting or stress conditions, leading to HF. Besides the acquired risk factors, the independent role of hereditary and genetic factors in the development, progression and prognosis of HF remains to be established...
November 21, 2016: Journal of Medical Genetics
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