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https://www.readbyqxmd.com/read/29160110/peroxiredoxin6-a-multitask-antioxidant-enzyme-involved-in-the-pathophysiology-of-chronic-non-communicable-diseases
#1
Francesca Pacifici, David Della-Morte, Barbara Capuani, Donatella Pastore, Alfonso Bellia, Paolo Sbraccia, Nicola Di Daniele, Renato Lauro, Davide Lauro
SIGNIFICANCE: Chronic Non-Communicable Diseases (NCDs) are the leading causes of disability and death worldwide. NCDs mainly comprise diabetes mellitus, cardiovascular diseases, chronic obstructive pulmonary disease (COPD), cancer, and neurological degenerative diseases, which kill more than 80% of population, especially elderlies, worldwide. Recent Advances: Several recent theories established NCDs as multifactorial diseases, where a combination of genetic, epigenetic and environmental factors contributes to their pathogenesis...
November 21, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/29158465/tonicity-responsive-enhancer-binding-protein-mediates-hyperglycemia-induced-inflammation-and-vascular-and-renal-injury
#2
Soo Youn Choi, Sun Woo Lim, Shabnam Salimi, Eun Jin Yoo, Whaseon Lee-Kwon, Hwan Hee Lee, Jun Ho Lee, Braxton D Mitchell, Satoru Sanada, Afshin Parsa, Hyug Moo Kwon
Diabetic nephropathy (DN) has become the single leading cause of ESRD in developed nations. Bearing in mind the paucity of effective treatment for DN and progressive CKD, novel targets for treatment are sorely needed. We previously reported that increased activity of tonicity-responsive enhancer-binding protein (TonEBP) in monocytes was associated with early DN in humans. We now extend these findings by testing the hypotheses that TonEBP in macrophages promotes hyperglycemia-mediated proinflammatory activation and chronic renal inflammation leading to DN and CKD, and TonEBP genetic variability in humans is associated with inflammatory, renal, and vascular function-related phenotypes...
November 20, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29157668/iron-induced-rna-oxidation-in-the-general-population-and-in-mouse-tissue
#3
Vanja Cejvanovic, Laura Kofoed Kjær, Helle Kirstine Mørup Bergholdt, Arendse Torp-Pedersen, Trine Henriksen, Allan Weimann, Christina Ellervik, Henrik Enghusen Poulsen
Iron promotes formation of hydroxyl radicals by the Fenton reaction, subsequently leading to potential oxidatively generated damage of nucleic acids. Oxidatively generated damage to RNA, measured as 8-oxo-7,8-dihydroguanosine (8-oxoGuo) in urine, is increased in patients with genetic iron overload, which have led us to test the hypothesis that high iron status, assessed by iron biomarkers and genetic disposition, increases urinary excretion of 8-oxoGuo. In a general Danish population study we used a Mendelian randomization design with HFE genotypes as a proxy for iron status and supplemented with ex vivo experiments in mice muscle tissue exposed to iron(II) sulfate to attempt to clarify this hypothesis...
November 17, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29155328/mitochondrial-trna-leu-uur-c3275t-trna-gln-t4363c-and-trna-lys-a8343g-mutations-may-be-associated-with-pcos-and-metabolic-syndrome
#4
Yu Ding, Bo-Hou Xia, Cai-Juan Zhang, Guang-Chao Zhuo
Polycystic ovary syndrome (PCOS) is a very prevalent endocrine disease affecting reproductive women. Clinically, patients with this disorder are more vulnerable to develop type 2 diabetes mellitus (T2DM), cardiovascular events, as well as metabolic syndrome (MetS). To date, the molecular mechanism underlying PCOS remains largely unknown. Previously, we showed that mitochondrial dysfunction caused by mitochondrial DNA (mtDNA) mutation was an important cause for PCOS. In the current study, we described the clinical and biochemical features of a three-generation pedigree with maternally transmitted MetS, combined with PCOS...
November 16, 2017: Gene
https://www.readbyqxmd.com/read/29154979/small-fiber-neuropathy-diagnosis-causes-and-treatment
#5
Damien Sène
Small fiber neuropathy, which affects the sensory A≏ and C fibers, is now a major diagnostic and therapeutic challenge. Nearly 7% of the general population have chronic neuropathic pain responsible for severe quality-of-life impairments. Awareness must therefore be raised among clinicians of the somatosensory and autonomic symptoms that can reveal small fiber neuropathy, appropriate diagnostic investigations, most common causes, and best treatment options for each patient profile. To help achieve this goal, the present review article discusses the clinical presentation of neuropathic pain and paresthesia and/or autonomic dysfunction due to involvement of nerves supplying exocrine glands and smooth muscle; normal findings from standard electrophysiological investigations; most informative diagnostic tests (epidermal nerve fiber density in a skin biopsy, laser-evoked potentials, heat- and cold-detection thresholds, electrochemical skin conductance); main causes, which consist chiefly of metabolic diseases (diabetes mellitus, glucose intolerance), dysimmunity syndromes (Sjögren's syndrome, sarcoidosis, monoclonal gammopathy), and genetic abnormalities (familial amyloidosis due to a transthyretin mutation, Fabry disease, sodium channel diseases); and the available symptomatic and etiological treatments...
November 15, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/29154870/the-fto-variant-is-associated-with-chronic-complications-of-diabetes-mellitus-in-czech-population
#6
Jaroslav A Hubacek, Dana Dlouha, Marta Klementova, Vera Lanska, Tomas Neskudla, Terezie Pelikanova
BACKGROUND: Genome-wide association studies have resulted in the identification of the FTO gene as an important genetic determinant of diabetes mellitus. The aim of this study was to confirm the role of this gene in the development of DM in the Czech-Slavonic population and to analyse whether this gene is associated with common DM complications. METHODS: Two groups of patients (814 with T1DM and 848 with T2DM) and a group of healthy controls (2339 individuals) - both of Czech origin - were genotyped for the FTO rs17817449 SNP...
November 14, 2017: Gene
https://www.readbyqxmd.com/read/29153750/family-history-of-diabetes-is-associated-with-enhanced-adipose-lipolysis-evidence-for-the-implication-of-epigenetic-factors
#7
I Dahlman, M Ryden, P Arner
AIMS: Type 2 diabetes is associated with insulin resistance, adipose hypertrophy and increased lipolysis. The heritability of these traits has been determined by associating them with a family history of diabetes. METHODS: Abdominal subcutaneous fat biopsies were obtained from 581 subjects in a cross-sectional study. Fat cells were isolated, and the difference between measured and expected fat-cell volume was used to determine adipose morphology (degree of hypertrophy or hyperplasia)...
November 11, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/29152572/a-null-mutation-in-serpine1-protects-against-biological-aging-in-humans
#8
Sadiya S Khan, Sanjiv J Shah, Ekaterina Klyachko, Abigail S Baldridge, Mesut Eren, Aaron T Place, Abraham Aviv, Eli Puterman, Donald M Lloyd-Jones, Meadow Heiman, Toshio Miyata, Sweta Gupta, Amy D Shapiro, Douglas E Vaughan
Plasminogen activator inhibitor-1 (PAI-1) has been shown to be a key component of the senescence-related secretome and a direct mediator of cellular senescence. In murine models of accelerated aging, genetic deficiency and targeted inhibition of PAI-1 protect against aging-like pathology and prolong life span. However, the role of PAI-1 in human longevity remains unclear. We hypothesized that a rare loss-of-function mutation in SERPINE1 (c.699_700dupTA), which encodes PAI-1, could play a role in longevity and metabolism in humans...
November 2017: Science Advances
https://www.readbyqxmd.com/read/29152150/meta-analysis-of-the-association-between-nlrp1-polymorphisms-and-the-susceptibility-to-vitiligo-and-associated-autoimmune-diseases
#9
Juan Li, Min Yan, Yuan Zhang, Chao Feng, Huicong Wang, Cuiyu Wang, Li Sun
Genetic variants are linked to vitiligo and associated autoimmune diseases. We performed a meta-analysis to evaluate the effects of the rs12150220, rs2670660, and rs6502867 polymorphisms within the human NLR Family Pyrin Domain Containing 1 (NLRP1) gene. We initially identified 1,306 candidate articles through literature searches of Pubmed, WOS, Embase, CNKI, WANFANGI, Ovid, Scopus, and Cochrane in July 2017. After strict screening, we included 19 eligible case-control studies, and analyzed the data using Stata/SE 12...
October 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/29149924/gastrointestinal-and-hepatic-disease-in-spondyloarthritis
#10
REVIEW
Liron Caplan, Kristine A Kuhn
The association of inflammatory arthritis with intestinal pathology extends back more than 100 years. This association is now supported by epidemiologic studies demonstrating an elevated prevalence of inflammatory bowel disease in spondyloarthritis and vice versa, compared with the general population. Genetic and intestinal microbiome studies have further linked these diseases. Although diabetes and nonalcoholic fatty liver disease disproportionately affect individuals with psoriatic arthritis, diseases of the esophagus, stomach, pancreas, and liver are not particularly common in spondyloarthritis...
February 2018: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29149824/the-role-of-gene-therapy-in-the-treatment-of-retinal-diseases-a-review
#11
Claudio Campa, Carla Enrica Gallenga, Elena Bolletta, Paolo Perri
Background: Gene therapy represents the therapeutic delivery of nucleic acid polymers into a patient's cells with the aim of treating an underlying disease. Over the past 2 decades this new therapy has made substantial progress owing to better understanding of the pathobiologic basis of various diseases coupled with growth of gene transfer biotechnologies. The eye, in particular, represents a suitable target for such therapy due to the immune privilege provided by the blood-ocular barrier, the ability to directly visualize, access and locally treat the cells and the minimal amount of vector needed given the size of this organ...
November 16, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/29149254/invited-commentary-gestational-hypertension-and-diabetes-a-major-public-health-concern
#12
Lewis H Kuller, Janet Catov
The obesity epidemic in the United States and other countries has contributed to an increase in the rates of gestational diabetes and hypertension. In the past, it was thought that most cases of gestational diabetes and hypertension would resolve after completion of pregnancy. In this issue of the Journal, Pace et al. (Am J Epidemiol. 2017;186(10):1115-1124) clearly documented that both gestational diabetes and hypertension lead to diabetes and hypertension and that the combination of both during pregnancy leads to very high rates of subsequent diabetes and hypertension...
November 15, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/29149222/personalized-medicine-and-hispanic-health-improving-health-outcomes-and-reducing-health-disparities-a-national-heart-lung-and-blood-institute-workshop-report
#13
M Larissa Avilés-Santa, John Heintzman, Nangel M Lindberg, Rafael Guerrero-Preston, Kenneth Ramos, Ana L Abraído-Lanza, Jonca Bull, Adolph Falcón, Mary Ann McBurnie, Ernest Moy, George Papanicolaou, Ileana L Piña, Jennifer Popovic, Shakira F Suglia, Miguel A Vázquez
Persons of Hispanic/Latino descent may represent different ancestries, ethnic and cultural groups and countries of birth. In the U.S., the Hispanic/Latino population is projected to constitute 29% of the population by 2060. A personalized approach focusing on individual variability in genetics, environment, lifestyle and socioeconomic determinants of health may advance the understanding of some of the major factors contributing to the health disparities experienced by Hispanics/Latinos and other groups in the U...
2017: BMC Proceedings
https://www.readbyqxmd.com/read/29146905/pericytes-regulate-vegf-induced-endothelial-sprouting-through-vegfr1
#14
Hanna M Eilken, Rodrigo Diéguez-Hurtado, Inga Schmidt, Masanori Nakayama, Hyun-Woo Jeong, Hendrik Arf, Susanne Adams, Napoleone Ferrara, Ralf H Adams
Pericytes adhere to the abluminal surface of endothelial tubules and are required for the formation of stable vascular networks. Defective endothelial cell-pericyte interactions are frequently observed in diseases characterized by compromised vascular integrity such as diabetic retinopathy. Many functional properties of pericytes and their exact role in the regulation of angiogenic blood vessel growth remain elusive. Here we show that pericytes promote endothelial sprouting in the postnatal retinal vasculature...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29146190/newly-developed-selective-immunoinactivation-assay-revealed-reduction-in-adipose-triglyceride-lipase-activity-in-peripheral-leucocytes-from-patients-with-idiopathic-triglyceride-deposit-cardiomyovasculopathy
#15
Atsuko Takagi, Yasuyuki Ikeda, Kunihisa Kobayashi, Kazuhiro Kobayashi, Yoshihiko Ikeda, Junji Kozawa, Hideyuki Miyauchi, Ming Li, Chikako Hashimoto, Yasuhiro Hara, Satoshi Yamaguchi, Akira Suzuki, Tatsushi Toda, Hironori Nagasaka, Ken-Ichi Hirano
Triglyceride deposit cardiomyovasculopathy (TGCV) is a rare and newly identified disease among patients requiring cardiac transplantation. TGCV is characterized by cardiomyocyte steatosis and triglyceride (TG)-deposit atherosclerosis, resulting from the abnormal intracellular metabolism of TG. TGCV is classified into primary and idiopathic types. Primary TGCV carries ultra-rare genetic mutations in the adipose triglyceride lipase (ATGL), a rate-liming enzyme that hydrolyzes intracellular TG in adipose and non-adipose tissues...
November 13, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29145638/consequences-of-calorie-restriction-and-calorie-excess-for-the-physiological-parameters-of-the-yeast-saccharomyces-cerevisiae-cells
#16
Roman Maslanka, Magdalena Kwolek-Mirek, Renata Zadrag-Tecza
Glucose plays an important role in cell metabolism and has an impact on cellular physiology. Changes in glucose availability may strongly influence growth rate of the cell size, cell metabolism and the rate of generation of cellular by-products, such as reactive oxygen species. The positive effect of low glucose concentration conditions-calorie restriction is observed in a wide range of species, including the Saccharomyces cerevisiae yeast, yet little is known about the effect of high glucose concentrations-calorie excess...
November 14, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/29145541/variations-in-adipor1-but-not-adipor2-are-associated-with-hypertriglyceridemia-and-diabetes-in-an-admixed-latin-american-population
#17
Gustavo Gustavo Mora-García, María S Ruiz-Díaz, Fabian Espitia-Almeida, Doris Gómez-Camargo
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial...
July 2017: Review of Diabetic Studies: RDS
https://www.readbyqxmd.com/read/29143895/genetic-approaches-to-the-study-of-gene-variants-and-their-impact-on-the-pathophysiology-of-type-2-diabetes
#18
REVIEW
Monica Szabo, Beáta Máté, Katalin Csép, Theodora Benedek
Diabetes mellitus is an incurable progressive disease, characterized by elevated blood glucose levels, which lead to the development of micro- and macrovascular complications. Although the etiopathology of the disease remains unclear, it seems to be multifactorial, with an important interaction between genetics and environmental causes. Currently, the genetics of type 2 diabetes (T2D) is poorly understood. The recent advance of the genetic technologies and with a better understanding of genetics, more than 120 distinct genetic loci, with more than 150 variants, have been identified that may be involved in the pathogenesis of T2D...
November 16, 2017: Biochemical Genetics
https://www.readbyqxmd.com/read/29143855/considerations-and-guidelines-for-mouse-metabolic-phenotyping-in-diabetes-research
#19
REVIEW
Thierry Alquier, Vincent Poitout
Mice are the most commonly used species in preclinical research on the pathophysiology of metabolic diseases. Although they are extremely useful for identifying pathways, mechanisms and genes regulating glucose and energy homeostasis, the specificities of the various mouse models and methodologies used to investigate a metabolic phenotype can have a profound impact on experimental results and their interpretation. This review aims to: (1) describe the most commonly used experimental tests to assess glucose and energy homeostasis in mice; (2) provide some guidelines regarding the design, analysis and interpretation of these tests, as well as for studies using genetic models; and (3) identify important caveats and confounding factors that must be taken into account in the interpretation of findings...
November 16, 2017: Diabetologia
https://www.readbyqxmd.com/read/29142975/sclerostin%C3%A2-a-debutant-on-the-autosomal-dominant-polycystic-kidney-disease-scene
#20
Magdalena Jankowska, Mathias Haarhaus, Abdul Rashid Qureshi, Bengt Lindholm, Pieter Evenepoel, Peter Stenvinkel
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disease originating from a mutation in genes encoding polycystin 1 and 2. Recent evidence suggests that these polycystins mediate mechanosensation not only in the primary cilium of kidney cells but also in bone cells. The Wnt/β-catenin signaling pathway plays a central role in mechanotransduction in osteocytes. Mechanical unloading causes the upregulation of the Wnt inhibitor sclerostin. We tested the hypothesis that ADPKD associates with higher circulating sclerostin levels...
May 2017: KI Reports
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