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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/29454067/considering-our-methods-methodological-issues-with-rodent-models-of-appetite-and-obesity-research
#1
Thomas A Lutz
A large number of animal models are currently used in appetite and obesity research. Because the worldwide incidence of obesity continues to climb, it is imperative that animal models sharing characteristics of human obesity and its co-morbidities be used appropriately in the quest for novel preventions or treatments. There is probably no animal model, at least in rodents, that recapitulates all aspects of "common" human obesity and its comorbidities, but rodent models allow insight into specific mechanisms of disease or its consequences...
February 14, 2018: Physiology & Behavior
https://www.readbyqxmd.com/read/29447230/propofol-induces-a-metabolic-switch-to-glycolysis-and-cell-death-in-a-mitochondrial-electron-transport-chain-dependent-manner
#2
Chisato Sumi, Akihisa Okamoto, Hiromasa Tanaka, Kenichiro Nishi, Munenori Kusunoki, Tomohiro Shoji, Takeo Uba, Yoshiyuki Matsuo, Takehiko Adachi, Jun-Ichi Hayashi, Keizo Takenaga, Kiichi Hirota
The intravenous anesthetic propofol (2,6-diisopropylphenol) has been used for the induction and maintenance of anesthesia and sedation in critical patient care. However, the rare but severe complication propofol infusion syndrome (PRIS) can occur, especially in patients receiving high doses of propofol for prolonged periods. In vivo and in vitro evidence suggests that the propofol toxicity is related to the impaired mitochondrial function. However, underlying molecular mechanisms remain unknown. Therefore, we investigated effects of propofol on cell metabolism and death using a series of established cell lines of various origins, including neurons, myocytes, and trans-mitochondrial cybrids, with defined mitochondrial DNA deficits...
2018: PloS One
https://www.readbyqxmd.com/read/29447178/joint-ancestry-and-association-test-indicate-two-distinct-pathogenic-pathways-involved-in-classical-dengue-fever-and-dengue-shock-syndrome
#3
Marisa Oliveira, Worachart Lert-Itthiporn, Bruno Cavadas, Verónica Fernandes, Ampaiwan Chuansumrit, Orlando Anunciação, Isabelle Casademont, Fanny Koeth, Marina Penova, Kanchana Tangnararatchakit, Chiea Chuen Khor, Richard Paul, Prida Malasit, Fumihiko Matsuda, Etienne Simon-Lorière, Prapat Suriyaphol, Luisa Pereira, Anavaj Sakuntabhai
Ethnic diversity has been long considered as one of the factors explaining why the severe forms of dengue are more prevalent in Southeast Asia than anywhere else. Here we take advantage of the admixed profile of Southeast Asians to perform coupled association-admixture analyses in Thai cohorts. For dengue shock syndrome (DSS), the significant haplotypes are located in genes coding for phospholipase C members (PLCB4 added to previously reported PLCE1), related to inflammation of blood vessels. For dengue fever (DF), we found evidence of significant association with CHST10, AHRR, PPP2R5E and GRIP1 genes, which participate in the xenobiotic metabolism signaling pathway...
February 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#4
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29445163/plasma-and-urinary-metabolomic-profiles-of-down-syndrome-correlate-with-alteration-of-mitochondrial-metabolism
#5
Maria Caracausi, Veronica Ghini, Chiara Locatelli, Martina Mericio, Allison Piovesan, Francesca Antonaros, Maria Chiara Pelleri, Lorenza Vitale, Rosa Anna Vacca, Federica Bedetti, Maria Chiara Mimmi, Claudio Luchinat, Paola Turano, Pierluigi Strippoli, Guido Cocchi
Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinctive facies and cognitive impairment. We conducted for the first time an analysis of the Nuclear Magnetic Resonance (NMR)-detectable part of the metabolome in plasma and urine samples, studying 67 subjects with DS and 29 normal subjects as controls selected among DS siblings. Multivariate analysis of the NMR metabolomic profiles showed a clear discrimination (up to of 80% accuracy) between the DS and the control groups...
February 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29441581/genetic-polymorphisms-of-htr2c-lep-and-lepr-on-metabolic-syndromes-in-patients-treated-with-atypical-antipsychotic-drugs
#6
Apichaya Puangpetch, Weerapon Unaharassamee, Napa Jiratjintana, Napatrupron Koomdee, Chonlaphat Sukasem
OBJECTIVE: Single nucleotide polymorphisms in serotonin 2C receptor (HTR2C), leptin (LEP), and leptin receptor (LEPR) genes are reportedly associated with the presence of metabolic syndrome (MS). We investigated whether HTR2C:rs518147 (-697G/C), rs12836771 (A/G), LEP: rs7799039 (-2548G/A) and LEPR:rs1137101 (668A/G) are related to MS in psychotic disorder patients treated with atypical antipsychotics. METHODS: A cross-sectional study including 200 patients was conducted; genetic polymorphisms in HTR2C (rs518147 and rs12836771), LEP (rs7799039) and LEPR (rs1137101) were genotyped...
February 13, 2018: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/29438472/klinefelter-syndrome-integrating-genetics-neuropsychology-and-endocrinology
#7
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29431147/the-pathogenetic-role-of-%C3%AE-cell-mitochondria-in-type-2-diabetes
#8
REVIEW
Malin Fex, Lisa M Nicholas, Neelanjan Vishnu, Anya Medina, Vladimir V Sharoyko, David G Nicholls, Peter Spégel, Hindrik Mulder
Mitochondrial metabolism is a major determinant of insulin secretion from pancreatic β-cells. Type 2 diabetes evolves when β-cells fail to release appropriate amounts of insulin in response to glucose. This results in hyperglycemia and metabolic dysregulation. Evidence has recently been mounting that mitochondrial dysfunction plays an important role in these processes. Monogenic dysfunction of mitochondria is a rare condition but causes a type 2 diabetes-like syndrome owing to β-cell failure. Here, we describe novel advances in research on mitochondrial dysfunction in the β-cell in type 2 diabetes, with a focus on human studies...
March 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29428506/8-year-retrospective-analysis-of-intravenous-arginine-therapy-for-acute-metabolic-strokes-in-pediatric-mitochondrial-disease
#9
Rebecca D Ganetzky, Marni J Falk
BACKGROUND: Intravenous (IV) arginine has been reported to ameliorate acute metabolic stroke symptoms in adult patients with Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) syndrome, where its therapeutic benefit is postulated to result from arginine acting as a nitric oxide donor to reverse vasospasm. Further, reduced plasma arginine may occur in mitochondrial disease since the biosynthesis of arginine's precursor, citrulline, requires ATP. Metabolic strokes occur across a wide array of primary mitochondrial diseases having diverse molecular etiologies that are likely to share similar pathophysiologic mechanisms...
February 2, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29426807/neonatal-epilepsy-genetics
#10
REVIEW
Erika J T Axeen, Heather E Olson
Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity)...
January 31, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29424482/zinc-deficiency-like-syndrome-in-fleckvieh-calves-clinical-and-pathological-findings-and-differentiation-from-bovine-hereditary-zinc-deficiency
#11
M C Langenmayer, S Jung, M Majzoub-Altweck, F M Trefz, C Seifert, G Knubben-Schweizer, R Fries, W Hermanns, N S Gollnick
BACKGROUND: Zinc deficiency-like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. OBJECTIVES: To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype...
February 9, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29423831/targeted-versus-untargeted-omics-the-cafsa-story
#12
Maria Del Mar Amador, Benoit Colsch, Foudil Lamari, Claude Jardel, Farid Ichou, Agnès Rastetter, Frédéric Sedel, Fabien Jourdan, Clément Frainay, Ronald A Wevers, Emmanuel Roze, Christel Depienne, Christophe Junot, Fanny Mochel
BACKGROUND: In 2009, untargeted metabolomics led to the delineation of a new clinico-biological entity called cerebellar ataxia with elevated cerebrospinal free sialic acid, or CAFSA. In order to elucidate CAFSA, we applied sequentially targeted and untargeted omic approaches. METHODS AND RESULTS: First, we studied five of the six CAFSA patients initially described. Besides increased CSF free sialic acid concentrations, three patients presented with markedly decreased 5-methyltetrahydrofolate (5-MTHF) CSF concentrations...
February 8, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29423213/cardiovascular-effects-of-metabolic-syndrome-after-transplantation-convergence-of-obesity-and-transplant-related-factors
#13
Kristen Sgambat, Sarah Clauss, Asha Moudgil
Children are at increased risk of developing metabolic syndrome (MS) after kidney transplantation, which contributes to long-term cardiovascular (CV) morbidities and decline in allograft function. While MS in the general population occurs due to excess caloric intake and physical inactivity, additional chronic kidney disease and transplant-related factors contribute to the development of MS in transplant recipients. Despite its significant health consequences, the interplay of the individual components in CV morbidity in pediatric transplant recipients is not well understood...
February 2018: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29421808/pathophysiology-of-functional-gastrointestinal-disorders-a-holistic-overview
#14
Gerald Holtmann, Ayesha Shah, Mark Morrison
Background and Summary: Traditionally, functional gastrointestinal disorders (FGID), including functional dyspepsia or irritable bowel syndrome (IBS), are defined by more or less specific symptoms and the absence of structural or biochemical abnormalities that cause these symptoms. This concept is now considered to be outdated; if appropriate tests are applied, structural or biochemical abnormalities that explain or cause the symptoms may be found in many patients. Another feature of FGID are the highly prevalent psychiatric comorbidities, such as depression and anxiety...
February 8, 2018: Digestive Diseases
https://www.readbyqxmd.com/read/29418021/association-between-serum-hepcidin-level-and-restless-legs-syndrome
#15
Yves Dauvilliers, Sofiene Chenini, Jérôme Vialaret, Constance Delaby, Lily Guiraud, Audrey Gabelle, Regis Lopez, Christophe Hirtz, Isabelle Jaussent, Sylvain Lehmann
BACKGROUND: To better understand the role of iron homeostasis dysregulation in restless legs syndrome, we compared serum hepcidin and ferritin levels in drug-free patients with primary restless legs syndrome and healthy controls and studied the relationship between hepcidin level and restless legs syndrome severity. METHODS: One hundred and eight drug-free patients with primary restless legs syndrome (65 women; median age, 61.5 years) and 45 controls (28 women; median age, 53...
February 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29415560/current-model-systems-for-the-study-of-preeclampsia
#16
M L Martinez-Fierro, G P Hernández-Delgadillo, V Flores-Morales, E Cardenas-Vargas, M Mercado-Reyes, I P Rodriguez-Sanchez, I Delgado-Enciso, C E Galván-Tejada, J I Galván-Tejada, J M Celaya-Padilla, I Garza-Veloz
Preeclampsia (PE) is a pregnancy complex disease, distinguished by high blood pressure and proteinuria, diagnosed after the 20th gestation week. Depending on the values of blood pressure, urine protein concentrations, symptomatology, and onset of disease there is a wide range of phenotypes, from mild forms developing predominantly at the end of pregnancy to severe forms developing in the early stage of pregnancy. In the worst cases severe forms of PE could lead to systemic endothelial dysfunction, eclampsia, and maternal and/or fetal death...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29412239/association-of-multiple-genetic-variants-with-the-extension-and-severity-of-coronary-artery-disease
#17
Simone Cristina Pinto Matheus Fischer, Simone Pires Pinto, Lívia Campos do Amaral Silva Lins, Henrique Tria Bianco, Carlos Manoel de Castro Monteiro, Luiz Fernando Muniz Pinheiro, Francisco Antonio Helfenstein Fonseca, Maria Cristina de Oliveira Izar
BACKGROUND: Metabolic syndrome (MS) is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis. OBJECTIVES: To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS). METHODS: Patients (n = 116, 68% males) aged 56 (9) years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS...
February 1, 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29412111/efficacy-of-p2y12-receptor-blockers-after-myocardial-infarction-and-genetic-variability-of-their-metabolic-pathways
#18
Jan Machal, Ota Hlinomaz
BACKGROUND: Various antiplatelet drugs are used following acute coronary syndromes (ACS). Of them, adenosine diphosphate receptor P2Y12 inhibitors clopidogrel, prasugrel and ticagrelor are currently used for post-ACS long-term treatment. Although they act on the same receptor, they differ in pharmacodynamics and pharmacokinetics. Several enzymes and transporters involved in the metabolism of P2Y12 inhibitors show genetic variability with functional impact. This includes P-glycoprotein, carboxylesterase 1 and, most notably, CYP2C19 that is important in clopidogrel activation...
February 5, 2018: Current Vascular Pharmacology
https://www.readbyqxmd.com/read/29410654/stress-tolerance-related-genetic-traits-of-fish-pathogen-flavobacterium-psychrophilum-in-a-mature-biofilm
#19
Héctor A Levipan, Johan Quezada, Ruben Avendaño-Herrera
Flavobacterium psychrophilum is the causative agent of bacterial cold-water disease and rainbow trout fry syndrome, and hence this bacterium is placed among the most important salmonid pathogens in the freshwater aquaculture industry. Since bacteria in biofilms differ substantially from free-living counterparts, this study sought to find the main differences in gene expression between sessile and planktonic states of F. psychrophilum LM-02-Fp and NCMB1947T, with focus on stress-related changes in gene expression occurring during biofilm formation...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29410348/caloric-restriction-improves-glucose-homeostasis-yet-increases-cardiometabolic-risk-in-caveolin-1-deficient-mice
#20
Korapat Mayurasakorn, Nurul Hasanah, Tsuyoshi Homma, Mika Homma, Isis Katayama Rangel, Amanda E Garza, Jose R Romero, Gail K Adler, Gordon H Williams, Luminita H Pojoga
BACKGROUND AND PURPOSE: The plasma membrane protein caveolin-1 (CAV-1) has been shown to be involved in modulating glucose homeostasis and the actions of the renin-angiotensin-aldosterone system (RAAS). Caloric restriction (CR) is widely accepted as an effective therapeutic approach to improve insulin sensitivity and reduce the severity of diabetes. Recent data indicate that polymorphisms of the CAV-1 gene are strongly associated with insulin resistance, hypertension and metabolic abnormalities in non-obese individuals...
February 1, 2018: Metabolism: Clinical and Experimental
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