keyword
MENU ▼
Read by QxMD icon Read
search

Genetics of Metabolic Syndrome

keyword
https://www.readbyqxmd.com/read/29235020/do-gstm1-and-gstt1-polymorphisms-influence-the-risk-of-developing-mitochondrial-diseases-in-a-tunisian-population
#1
Raouia Ghorbel, Ghada Ben Salah, Rania Ghorbel, Afif Ben Mahmoud, Imen Chamkha, Emna Mkaouar-Rebai, Leila Ammar-Keskes, Faiza Fakhfakh
Mitochondria play an essential role to supply the cell with metabolic energy in the form of adenosine triphosphate (ATP) through oxidative phosphorylation (OXPHOS). As a consequence, they are also the primary source of cellular reactive oxygen species (ROS) which can cause oxidative damage of individual respiratory chain complexes. Indeed, affected OXPHOS subunits result in decreases in ATP production and increases in ROS formation which generate oxidative phosphorylation deficiency leading to mitochondrial dysfunctions...
December 12, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29229897/integrative-analysis-to-identify-common-genetic-markers-of-metabolic-syndrome-dementia-and-diabetes
#2
Weihong Zhang, Linlin Xin, Ying Lu
BACKGROUND Emerging data have established links between systemic metabolic dysfunction, such as diabetes and metabolic syndrome (MetS), with neurocognitive impairment, including dementia. The common gene signature and the associated signaling pathways of MetS, diabetes, and dementia have not been widely studied. MATERIAL AND METHODS We exploited the translational bioinformatics approach to choose the common gene signatures for both dementia and MetS. For this we employed "DisGeNET discovery platform". RESULTS Gene mining analysis revealed that a total of 173 genes (86 genes common to all three diseases) which comprised a proportion of 43% of the total genes associated with dementia...
December 12, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29226618/enteroinsular-hormones-in-two-siblings-with-donohue-syndrome-and-complete-leptin-deficiency
#3
M Güemes, S A Rahman, P Shah, K Hussain
The main biochemical hallmark of the rare and lethal condition of Donohue syndrome (DS) is hyperinsulinemia. The roles of the gut and other pancreatic hormones involved in glucose metabolism, satiety and energy expenditure have not been previously reported in DS. Two siblings with genetically confirmed DS and extremely low weight underwent a mixed meal (MM) test where pancreatic hormones insulin, C-peptide, glucagon, active amylin, pancreatic polypeptide (PP) as well as gut hormones active glucagon-like peptide 1 (GLP-1), glucose-dependent insulinotropic peptide (GIP), ghrelin, peptide YY (PYY) and leptin were analyzed using a Multiplex assay...
December 11, 2017: Pediatric Diabetes
https://www.readbyqxmd.com/read/29226105/non-alcoholic-fatty-liver-disease-a-clinical-update
#4
REVIEW
Joseph M Pappachan, Shithu Babu, Babu Krishnan, Nishal C Ravindran
Non-alcoholic fatty liver disease (NAFLD) is currently the most common chronic liver disease in developed countries because of the obesity epidemic. The disease increases liver-related morbidity and mortality, and often increases the risk for other comorbidities, such as type 2 diabetes and cardiovascular disease. Insulin resistance related to metabolic syndrome is the main pathogenic trigger that, in association with adverse genetic, humoral, hormonal and lifestyle factors, precipitates development of NAFLD...
December 28, 2017: Journal of Clinical and Translational Hepatology
https://www.readbyqxmd.com/read/29223885/three-novel-slc2a1-mutations-in-bulgarian-patients-with-different-forms-of-genetic-generalized-epilepsy-reflecting-the-clinical-and-genetic-diversity-of-glut1-deficiency-sydnrome
#5
Nevyana Ivanova, Valentina Peycheva, Kunka Kamenarova, Dalia Kancheva, Irina Tsekova, Iliana Aleksandrova, Dimitrina Hristova, Ivan Litvinenko, Diana Todorova, Gergana Sarailieva, Petya Dimova, Veselin Tomov, Veneta Bozhinova, Vanio Mitev, Radka Kaneva, Albena Jordanova
PURPOSE: GLUT1-deficiency syndrome (GLUT1-DS) is a metabolic brain disorder with a great clinical heterogeneity underlined by various mutations in the SLC2A1 gene which make the clinical and genetic diagnosis complicated. The purpose of our study is to investigate the genetic defects affecting the SLC2A1 gene in a group of Bulgarian patients with genetic generalized epilepsy (GGE), and to bring new insights into the molecular pathology of GLUT1-DS that would strengthen the genotype-phenotype correlations and improve the diagnostic procedure...
November 28, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29220106/chemoprevention-by-resveratrol-and-pterostilbene-targeting-on-epigenetic-regulation
#6
REVIEW
Pei-Sheng Lee, Yi-Shiou Chiou, Chi-Tang Ho, Min-Hsiung Pan
Epigenetic mechanisms are essential in regulating normal cellular functions and play an important role during the disease developmental stages. However, aberrant epigenetic mechanisms may lead to pathological consequences such as cancer, neurological disorders, bone and skeletal diseases, cardiovascular dysfunction, and metabolic syndrome. The molecular mechanisms of epigenetic modification include DNA methylation, histone modification (acetylation, methylation and phosphorylation), and microRNAs (miRNAs). Unlike genetic modifications, epigenetic states of genes are reversible and can be altered by certain intrinsic and extrinsic factors...
December 8, 2017: BioFactors
https://www.readbyqxmd.com/read/29218646/cardiovascular-and-metabolic-complications-diagnosis-and-management-in-obese-children
#7
REVIEW
Naval K Vikram
The world at present is facing a burden of rising prevalence of obesity in children and adolescents. The developing countries are particularly facing the dual burden on under-nutrition and obesity. This is associated with appearance and clustering of cardiometabolic abnormalities at an early age with development of chronic complications early and possible decrease in life span of these children and adolescents. In adults this clustering has been termed as 'metabolic syndrome' with definitions that can be used universally...
December 8, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29212898/genetic-testing-in-pediatric-left-ventricular-noncompaction
#8
Erin M Miller, Robert B Hinton, Richard Czosek, Angela Lorts, Ashley Parrott, Amy R Shikany, Richard F Ittenbach, Stephanie M Ware
BACKGROUND: Left ventricular noncompaction (LVNC) can occur in isolation or can co-occur with a cardiomyopathy phenotype or cardiovascular malformation. The yield of cardiomyopathy gene panel testing in infants, children, and adolescents with a diagnosis of LVNC is unknown. By characterizing a pediatric population with LVNC, we sought to determine the yield of cardiomyopathy gene panel testing, distinguish the yield of testing for LVNC with or without co-occurring cardiac findings, and define additional factors influencing genetic testing yield...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212281/genetic-predisposition-toward-suicidal-ideation-in-patients-with-acute-coronary-syndrome
#9
Hee-Ju Kang, Kyung-Yeol Bae, Sung-Wan Kim, Il-Seon Shin, Young Joon Hong, Youngkeun Ahn, Myung Ho Jeong, Jin-Sang Yoon, Jae-Min Kim
The genetic predisposition toward suicidal ideation has been explored to identify subgroups at high risk and to prevent suicide. Acute coronary syndrome (ACS) is associated with an increased risk of suicide, but few studies have explored the genetic predisposition toward suicide in ACS populations. Therefore, this longitudinal study explored the genetic predisposition toward suicidal ideation in ACS patients. In total, of 969 patients within 2 weeks after ACS, 711 were followed at 1 year after ACS. Suicidal ideation was evaluated with the relevant items on the Montgomery-Åsberg Depression Rating Scale...
November 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/29205472/progressive-deafness-dystonia-due-to-serac1-mutations-a-study-of-67-cases
#10
Saskia B Wortmann, Katarzyna Iwanicka-Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed A Al-Owain, Hamad I Al-Zaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K Chung, Roberto Colombo, Niklas Darin, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grunewald, Tobias B Haack, Peter M van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Reka Kovacs-Nagy, Zita Krumina, Elena Martin-Hernandez, Johannes A Mayr, Patricia McClean, Linda De Meirleir, Karin Naess, Lock H Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa Riley, Benjamin Roeben, Frank Rutsch, Rene Santer, Manuel Schiff, Martine Seders, Silvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W Taylor, Joanna Trubicka, Konstantinos Tsiakas, Ozlem Unal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Eva Morava, Ewa Pronicka, Ron A Wevers, Arjan P de Brouwer, Roeltje R Maas
OBJECTIVE: 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome (MEGDHEL) syndrome is caused by biallelic variants in SERAC1. METHODS: Multi centre study concerning the course of disease for each organ system, together with metabolic, neuroradiological and genetic findings. RESULTS: 67 individuals (39 previously unreported) from 59 families were included (age range 5 days - 33.4 years, median age 9 years)...
December 2, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/29205204/mthfr-ts-and-xrcc1-genetic-variants-may-affect-survival-in-patients-with-myelodysplastic-syndromes-treated-with-supportive-care-or-azacitidine
#11
G Visani, F Loscocco, A Ruzzo, S Galimberti, F Graziano, M T Voso, E Giacomini, C Finelli, E Ciabatti, E Fabiani, S Barulli, A Volpe, D Magro, P Piccaluga, F Fuligni, M Vignetti, P Fazi, A Piciocchi, E Gabucci, M Rocchi, M Magnani, A Isidori
We evaluated the impact of genomic polymorphisms in folate-metabolizing, DNA synthesis and DNA repair enzymes on the clinical outcome of 108 patients with myelodysplastic syndromes (MDS) receiving best supportive care (BSC) or azacitidine. A statistically significant association between methylenetetrahydrofolate reductase (MTHFR) 677T/T, thymidylate synthase (TS) 5'-untranslated region (UTR) 3RG, TS 3'-UTR -6 bp/-6 bp, XRCC1 399G/G genotypes and short survival was found in patients receiving BSC by multivariate analysis (P<0...
December 5, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29193419/effects-of-artichoke-leaf-extract-supplementation-on-metabolic-parameters-in-women-with-metabolic-syndrome-influence-of-tcf7l2-rs7903146-and-fto-rs9939609-polymorphisms
#12
Khatereh Rezazadeh, Mohammad Rahmati-Yamchi, Leila Mohammadnejad, Mehrangiz Ebrahimi-Mameghani, Abbas Delazar
The metabolic syndrome (MetS) is a multicomponent condition with a complex etiology involving genetic and environmental factors. Artichoke leaf extract (ALE) has shown favorable effects on lipid and glucose metabolism. The present study aimed to investigate the effects of ALE supplementation on metabolic parameters in women with MetS, using a nutrigenetics approach. In this double-blind randomized clinical trial, 50 women (aged 20-50 years) with MetS were randomly allocated into the two groups: "ALE group" (received 1,800 mg hydroalcoholic extract of artichoke as four tablets per day) and "placebo group" (received placebo consisted of corn starch, lactose, and avicel as four tablets per day) for 12 weeks...
November 29, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/29186428/genome-wide-meta-analysis-identifies-novel-determinants-of-circulating-serum-progranulin
#13
Anke Tönjes, Markus Scholz, Jacqueline Krüger, Kerstin Krause, Dorit Schleinitz, Holger Kirsten, Claudia Gebhardt, Carola Marzi, Harald Grallert, Claes Ladenvall, Henrike Heyne, Esa Laurila, Jennifer Kriebel, Christa Meisinger, Wolfgang Rathmann, Christian Gieger, Leif Groop, Inga Prokopenko, Bo Isomaa, Frank Beutner, Jürgen Kratzsch, Antje Fischer-Rosinsky, Andreas Pfeiffer, Knut Krohn, Joachim Spranger, Joachim Thiery, Matthias Blüher, Michael Stumvoll, Peter Kovacs
Progranulin is a secreted protein with important functions in processes including immune and inflammatory response, metabolism and embryonic development. The present study aimed at identification of genetic factors determining progranulin concentrations.We conducted a genome-wide association meta-analysis for serum progranulin in three independent cohorts from Europe: Sorbs (N = 848) and KORA (N = 1,628) from Germany and PPP-Botnia (N = 335) from Finland (total N = 2,811). SNPs associated with progranulin levels were replicated in two additional German cohorts: LIFE Heart Study (Leipzig; N = 967) and Metabolic Syndrome Berlin Potsdam (Berlin cohort; N = 833)...
November 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29185916/drug-drug-interactions-in-cocaine-users-and-their-clinical-implications
#14
Luca Gallelli, Santo Gratteri, Antonio Siniscalchi, Erika Cione, Sabrina Sirico, Paolo Seminara, Giovambattista De Sarro, Maria Cristina Caroleo
Drug-drug interactions (DDIs) are a common problem in clinical practice during drug treatments. DDIs can induce development of adverse drug reactions or reduce clinical efficacy of the drugs. In this review, using PubMed, Embase and Cochrane library we searched articles published until January 10, 2017, and described both pharmacokinetic and pharmacodynamic DDIs in cocaine consumers, focusing the interest on their clinical implications. In this review, the nodal points treated focused on: i) cocaine biochemical metabolism described for both, inactive benzoylecgonine and ecgonine methyl esters and norcocaine active metabolites...
September 20, 2017: Current Drug Abuse Reviews
https://www.readbyqxmd.com/read/29184809/review-of-prader-willi-syndrome-the-endocrine-approach
#15
REVIEW
Ryan Heksch, Manmohan Kamboj, Kathryn Anglin, Kathryn Obrynba
Prader-Willi syndrome (PWS) is a complex genetic disorder with implications on the endocrine and neurologic systems, metabolism, and behavior. Early in life, PWS is characterized by hypotonia and failure to thrive, followed by obesity and hyperphagia. Patients with PWS develop hypothalamic dysfunction which may lead growth hormone deficiency (GHD), hypogonadism, hypothyroidism, adrenal insufficiency, and poor bone mineral density (BMD). In addition to hypothalamic dysfunction, individuals with PWS have increased risk for obesity which may be complicated by metabolic syndrome and type 2 diabetes mellitus (T2DM)...
October 2017: Translational Pediatrics
https://www.readbyqxmd.com/read/29182200/-epigenetics-of-polycystic-ovary-syndrome
#16
Francisca Concha C, Teresa Sir P, Sergio E Recabarren, Francisco Pérez B
Polycystic ovarian syndrome (PCOS) is an endocrine and metabolic dysfunction, highly prevalent in women in their reproductive years. Hyperandrogenism, oligo-ovulation, polycystic ovarian morphology are the main features of this syndrome. PCOS is a genetic disorder with a multifactorial etiology and has a strong link with environmental components. It is frequently associated with obesity and insulin resistance. Recently, epigenetic mechanisms have been involved in the pathogenesis of PCOS. Several studies showed that methylation in DNA and miRNAs is altered in women with PCOS in blood, serum, adipose tissue, granulose cells and theca...
July 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29178045/considering-choline-as-methionine-precursor-lipoproteins-transporter-hepatic-promoter-and-antioxidant-agent-in-dairy-cows
#17
REVIEW
Imtiaz Hussain Raja Abbasi, Farzana Abbasi, Rab N Soomro, Mohamed E Abd El-Hack, Mervat A Abdel-Latif, Wen Li, Ren Hao, Feifei Sun, Bello M Bodinga, Khawar Hayat, Junhu Yao, Yangchun Cao
During the transition period, fatty liver syndrome may be caused in cows undergo negative energy balance, ketosis or hypocalcemia, retained placenta or mastitis problems. During the transition stage, movement of non-esterified fatty acids (NEFA) increases into blood which declines the hepatic metabolism or reproduction and consequently, lactation performance of dairy cows deteriorates. Most of studies documented that, choline is an essential nutrient which plays a key role to decrease fatty liver, NEFA proportion, improve synthesis of phosphatidylcholine, maintain lactation or physiological function and work as anti-oxidant in the transition period of dairy cows...
November 25, 2017: AMB Express
https://www.readbyqxmd.com/read/29169913/the-strategic-function-of-the-p5-atpase-atp13a2-in-toxic-waste-disposal
#18
Felicitas de Tezanos Pinto, Hugo Pedro Adamo
The P-type ATPase ATP13A2 protein was originally associated with a form of Parkinson's Disease (PD) known as Kufor Rakeb Syndrome (KRS). However, in the last years it has been found to underlay variants of neuronal ceroid-lipofuscinoses and hereditary spastic paraplegia. These findings expand the clinical and genetic spectrum of ATP13A2-associated disorders, which are commonly characterized by lysosomal dysfunction. Nowadays it is well known that lysosomes are not merely related to the degradation and recycling of cellular waste, but are also involved in fundamental processes such as secretion, plasma membrane repair, signaling, energy metabolism and autophagy...
November 20, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/29169710/dysmetabolic-iron-overload-syndrome-dios
#19
Yves Deugnier, Édouard Bardou-Jacquet, Fabrice Lainé
Dysmetabolic iron overload syndrome (DIOS) corresponds to mild increase in both liver and body iron stores associated with various components of metabolic syndrome in the absence of any identifiable cause of iron excess. It is characterized by hyperferritinemia with normal or moderately increased transferrin saturation, one or several metabolic abnormalities (increased body mass index with android distribution of fat, elevated blood pressure, dyslipidaemia, abnormal glucose metabolism, steatohepatitis), and mild hepatic iron excess at magnetic resonance imaging or liver biopsy...
December 2017: La Presse Médicale
https://www.readbyqxmd.com/read/29161666/genetic-variants-and-acute-kidney-injury-a-review-of-the-literature
#20
REVIEW
Daniel B Larach, Milo C Engoren, Ellen M Schmidt, Michael Heung
PURPOSE: Limited data exists on potential genetic contributors to acute kidney injury. This review examines current knowledge of AKI genomics. MATERIALS AND METHODS: 32 studies were selected from PubMed and GWAS Catalog queries for original data studies of human AKI genetics. Hand search of references identified 3 additional manuscripts. RESULTS: 33 of 35 studies were hypothesis-driven investigations of candidate polymorphisms that either did not consistently replicate statistically significant findings, or obtained significant results only in few small-scale studies...
November 13, 2017: Journal of Critical Care
keyword
keyword
1638
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"