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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/28081274/role-of-methylenetetrahydrofolate-reductase-c677t-and-a1298c-polymorphisms-in-polycystic-ovary-syndrome-risk
#1
J B Wu, J F Zhai, J Yang
Polycystic ovary syndrome is one of the most frequently encountered endocrine malfunctions. Methylenetetrahydrofolate reductase (MTHFR) plays a vital role in folate metabolism, DNA methylation, and RNA synthesis. We carried out a study to investigate the association between MTHFR C677T and A1298C genetic variations and the risk of polycystic ovary syndrome in a Chinese population. We recruited 244 patients and 257 control subjects from an Inner Mongolian Medical University to this hospital-based, case-control study...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28078995/sphingolipids-in-genetic-and-acquired-forms-of-chronic-kidney-diseases
#2
Norishi Ueda
Sphingolipids (SLs) regulate apoptosis, proliferation, and stress response. SLs, including ceramide, glycosphingolipids (glucosylceramide, lactosylceramide, and gangliosides) and sphingosine-1-phosphate (S1P), play a role in the pathogenesis and progression of genetic (lysosomal storage disease, congenital nephrotic syndrome and polycystic kidney disease) and non-genetic forms of chronic kidney diseases (CKDs). SLs metabolism defects promote complications (cardiovascular events, etc.) via oxidant stress in CKDs...
January 12, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28077318/alcohol-microbiome-life-style-influence-alcohol-and-non-alcoholic-organ-damage
#3
REVIEW
Manuela G Neuman, Samuel W French, Samir Zakhari, Stefen Malnick, Helmut K Seitz, Lawrence B Cohen, Mikko Salaspuro, Andreea Voinea Griffin, Andrei Barasch, Irina A Kirpich, Paul G Thomes, Laura W Schrum, Terrence M Donohue, Kusum Kharbanda, Marcus Cruz, Mihai Opris
This paper is based upon the "8th Charles Lieber's Satellite Symposium" organized by Manuela G. Neuman at the Research Society on Alcoholism Annual Meeting, onJune 25, 2016 at New Orleans, Louisiana, USA. The integrative symposium investigated different aspects of alcohol-induced liver disease (ALD) as well as non-alcohol-induced liver disease (NAFLD) and possible repair. We revealedthe basic aspects of alcohol metabolism that may be responsible for the development of liver diseaseas well as the factors that determine the amount, frequency and which type of alcohol misuse leads to liver and gastrointestinal diseases...
January 7, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#4
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28068351/phenotype-and-tissue-expression-as-a-function-of-genetic-risk-in-polycystic-ovary-syndrome
#5
Cindy T Pau, Tim Mosbruger, Richa Saxena, Corrine K Welt
Genome-wide association studies and replication analyses have identified (n = 5) or replicated (n = 10) DNA variants associated with risk for polycystic ovary syndrome (PCOS) in European women. However, the causal gene and underlying mechanism for PCOS risk at these loci have not been determined. We hypothesized that analysis of phenotype, gene expression and metformin response as a function of genotype would identify candidate genes and pathways that could provide insight into the underlying mechanism for risk at these loci...
2017: PloS One
https://www.readbyqxmd.com/read/28067622/a-homozygous-fitm2-mutation-causes-a-deafness-dystonia-syndrome-with-motor-regression-and-signs-of-ichthyosis-and-sensory-neuropathy
#6
Celia Zazo Seco, Anna Castells-Nobau, Seol-Hee Joo, Margit Schraders, Jia Nee Foo, Monique van der Voet, S Sendhil Velan, Bonnie Nijhof, Jaap Oostrik, Erik de Vrieze, Radoslaw Katana, Atika Mansoor, Martijn Huynen, Radek Szklarczyk, Martin Oti, Lisbeth Tranebjærg, Erwin van Wijk, Jolanda M Scheffer-de Gooyert, Saadat Siddique, Jonathan Baets, Peter de Jonghe, Syed Ali Raza Kazmi, Suresh Anand Sadananthan, Bart P van de Warrenburg, Chiea Chuen Khor, Martin C Göpfert, Raheel Qamar, Annette Schenck, Hannie Kremer, Saima Siddiqi
A consanguineous family from Pakistan was ascertained with a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*), in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals...
December 15, 2016: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28065471/mutations-in-atp6v1e1-or-atp6v1a-cause-autosomal-recessive-cutis-laxa
#7
Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, Sergio Guerrero-Castillo, Peter Freisinger, Brecht Guillemyn, Ariana Kariminejad, Daisy Dalloyaux, Sanne van Kraaij, Dirk J Lefeber, Delfien Syx, Wouter Steyaert, Riet De Rycke, Alexander Hoischen, Erik-Jan Kamsteeg, Sunnie Y Wong, Monique van Scherpenzeel, Payman Jamali, Ulrich Brandt, Leo Nijtmans, G Christoph Korenke, Brian H Y Chung, Christopher C Y Mak, Ingrid Hausser, Uwe Kornak, Björn Fischer-Zirnsak, Tim M Strom, Thomas Meitinger, Yasemin Alanay, Gulen E Utine, Peter K C Leung, Siavash Ghaderi-Sohi, Paul Coucke, Sofie Symoens, Anne De Paepe, Christian Thiel, Tobias B Haack, Fransiska Malfait, Eva Morava, Bert Callewaert, Ron A Wevers
Defects of the V-type proton (H(+)) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A, which encode the E1 and A subunits, respectively, of the V1 domain of the heteromultimeric V-ATPase complex. Structural modeling indicated that all substitutions affect critical residues and inter- or intrasubunit interactions...
December 29, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28062374/proteomic-analysis-of-the-rett-syndrome-experimental-model-mecp2-q63x-mutant-zebrafish
#8
Alessio Cortelazzo, Thomas Pietri, Claudio De Felice, Silvia Leoncini, Roberto Guerranti, Cinzia Signorini, Anna Maria Timperio, Lello Zolla, Lucia Ciccoli, Joussef Hayek
: Rett syndrome (RTT) is a severe genetic disorder resulting from mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene. Recently, a zebrafish carrying a mecp2-null mutation has been developed with the resulting phenotypes exhibiting defective sensory and thigmotactic responses, and abnormal motor behavior reminiscent of the human disease. Here, we performed a proteomic analysis to examine protein expression changes in mecp2-null vs. wild-type larvae and adult zebrafish...
January 3, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28060197/identical-twins-discordant-for-metopic-craniosynostosis-evidence-of-epigenetic-influences
#9
Suresh N Magge, Kendall Snyder, Aparna Sajja, Tiffani A DeFreitas, Sean E Hofherr, Richard E Broth, Robert F Keating, Gary F Rogers
Craniosynostosis, or premature fusion of the cranial sutures, occurs in approximately 1 in 2500 live births. The genetic causes and molecular basis of these disorders have greatly expanded over the last 2 decades, with numerous causative and contributory mutations having been identified. The role of fibroblast growth factor receptor (FGFR) mutations in the etiology of certain eponymous forms of craniosynostosis is now well elucidated; the most common syndromes associated with craniosynostosis are Pfeifer (FGFR1, FGFR2), Apert (FGFR2), Crouzon (FGFR2), Saethre-Chotzen (TWIST1), Jackson-Weiss (FGFR2), Greig (GL13), and Muenke (FGFR3) syndromes...
January 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28052106/a-prediction-algorithm-for-drug-response-in-patients-with-mesial-temporal-lobe-epilepsy-based-on-clinical-and-genetic-information
#10
Mariana S Silva-Alves, Rodrigo Secolin, Benilton S Carvalho, Clarissa L Yasuda, Elizabeth Bilevicius, Marina K M Alvim, Renato O Santos, Claudia V Maurer-Morelli, Fernando Cendes, Iscia Lopes-Cendes
Mesial temporal lobe epilepsy is the most common form of adult epilepsy in surgical series. Currently, the only characteristic used to predict poor response to clinical treatment in this syndrome is the presence of hippocampal sclerosis. Single nucleotide polymorphisms (SNPs) located in genes encoding drug transporter and metabolism proteins could influence response to therapy. Therefore, we aimed to evaluate whether combining information from clinical variables as well as SNPs in candidate genes could improve the accuracy of predicting response to drug therapy in patients with mesial temporal lobe epilepsy...
2017: PloS One
https://www.readbyqxmd.com/read/28046027/genome-wide-association-study-reveals-four-loci-for-lipid-ratios-in-the-korean-population-and-the-constitutional-subgroup
#11
Taehyeung Kim, Ah Yeon Park, Younghwa Baek, Seongwon Cha
Circulating lipid ratios are considered predictors of cardiovascular risks and metabolic syndrome, which cause coronary heart diseases. One constitutional type of Korean medicine prone to weight accumulation, the Tae-Eum type, predisposes the consumers to metabolic syndrome, hypertension, diabetes mellitus, etc. Here, we aimed to identify genetic variants for lipid ratios using a genome-wide association study (GWAS) and followed replication analysis in Koreans and constitutional subgroups. GWASs in 5,292 individuals of the Korean Genome and Epidemiology Study and replication analyses in 2,567 subjects of the Korea medicine Data Center were performed to identify genetic variants associated with triglyceride (TG) to HDL cholesterol (HDLC), LDL cholesterol (LDLC) to HDLC, and non-HDLC to HDLC ratios...
2017: PloS One
https://www.readbyqxmd.com/read/28045861/pharmacokinetics-and-pharmacogenetics-of-ssris-during-pregnancy-an-observational-study
#12
Laura Pogliani, Felicia Stefania Falvella, Dario Cattaneo, Paola Pileri, Anna Flora Moscatiello, Stefania Cheli, Sara Baldelli, Valentina Fabiano, Irene Cetin, Emilio Clementi, Gianvincenzo Zuccotti
BACKGROUND: An involvement of selective serotonin reuptake inhibitors (SSRIs) in increasing the risk of malformations, neonatal withdrawal syndrome, has been suggested recently. Here, we aimed to investigate the contribution of individual pharmacogenetics of SSRI on infants' outcome. We also estimated the umbilical/maternal plasma SSRI concentration ratio in the pregnant women still on SSRI therapy at the time of delivery. METHODS: Thirty-four pregnant women, referred to our hospital from January 2011 to July 2015, who were given SSRIs in the third trimester, and related children, were considered...
December 29, 2016: Therapeutic Drug Monitoring
https://www.readbyqxmd.com/read/28044372/psoriasis-and-metabolic-syndrome-in-children-current-data
#13
A Pietrzak, E Grywalska, M Walankiewicz, T Lotti, J Roliński, W Myśliński, P Chabros, D Piekarska-Myślińska, K Reich
BACKGROUND: The prevalence of cardiovascular and metabolic disorders in paediatric patients with psoriasis is not well established. AIM: To conduct a meta-analysis of previously published studies dealing with the occurrence of metabolic disorders in children with psoriasis. METHODS: Data from 7 studies with a total of 965 children with psoriasis were analysed using a random effects model. RESULTS: Prevalence of metabolic syndrome (MetS) was significantly higher in patients with psoriasis than in healthy controls (HCs)...
January 2, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28041596/clinical-settings-in-knee-osteoarthritis-pathophysiology-guides-treatment
#14
REVIEW
Gabriel Herrero-Beaumont, Jorge A Roman-Blas, Olivier Bruyère, Cyrus Cooper, John Kanis, Stefania Maggi, René Rizzoli, Jean-Yves Reginster
Osteoarthritis (OA) is the most common chronic joint disorder and its prevalence increases rapidly during midlife. Complex interactions of genetic alterations, sex hormone deficit, and aging with mechanical factors and systemic inflammation-associated metabolic syndrome lead to joint damage. Thus, the expression of a clinical phenotype in the early stages of OA relies on the main underlying pathway and predominant joint tissue involved at a given time. Moreover, OA often coexists with other morbidities in the same patient, which in turn condition the OA process...
February 2017: Maturitas
https://www.readbyqxmd.com/read/28031327/inpp5e-preserves-genomic-stability-through-regulation-of-mitosis
#15
Elizabeth A Sierra Potchanant, Donna Cerabona, Zahi Abdul Sater, Ying He, Zejin Sun, Jeff Gehlhausen, Grzegorz Nalepa
The partially understood phosphoinositide signaling cascade regulates multiple aspects of cellular metabolism. Previous studies revealed that INPP5E, the inositol polyphosphate-5-phosphatase mutated in the developmental disorders Joubert and MORM syndromes, is essential for the function of the primary cilium and maintenance of phosphoinositide balance in non-dividing cells. Here, we report that INPP5E further contributes to cellular homeostasis by regulating cell division. We found that silencing or genetic knockout of INPP5E in human and murine cells impairs the spindle assembly checkpoint, centrosome and spindle function, and maintenance of chromosomal integrity...
December 28, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28031324/overweight-and-obese-but-not-normal-weight-women-with-pcos-are-at-increased-risk-of-type-2-diabetes-mellitus-a-prospective-population-based-cohort-study
#16
M-M E Ollila, S West, S Keinänen-Kiukaanniemi, J Jokelainen, J Auvinen, K Puukka, A Ruokonen, M-R Järvelin, J S Tapanainen, S Franks, T T Piltonen, L C Morin-Papunen
STUDY QUESTION: What are the respective roles of polycystic ovary syndrome (PCOS), long-term weight gain and obesity for the development of prediabetes or Type 2 diabetes mellitus (T2DM) by age 46 years? SUMMARY ANSWER: The risk of T2DM in women with PCOS is mainly due to overweight and obesity, although these two factors have a synergistic effect on the development of T2DM. WHAT IS KNOWN ALREADY: PCOS is associated with an increased risk of prediabetes and T2DM...
December 28, 2016: Human Reproduction
https://www.readbyqxmd.com/read/28027788/non-alcoholic-fatty-liver-disease-and-subclinical-atherosclerosis-a-comparison-of-metabolically-versus-genetically-driven-excess-fat-hepatic-storage
#17
Alessia Di Costanzo, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Paola Coletta, Michele Di Martino, Lorenzo Loffredo, Ludovica Perri, Fabrizio Ceci, Anna Montali, Gabriella Girelli, Bruna De Masi, Antonio Angeloni, Carlo Catalano, Marianna Maranghi, Maria Del Ben, Francesco Angelico, Marcello Arca
BACKGROUND AND AIMS: Non-alcoholic fatty liver disease (NAFLD) is frequently associated with atherosclerosis. However, it is unclear whether this association is related to excess fat liver storage per se or to metabolic abnormalities that typically accompany NAFLD. To investigate this, we compared individuals with hepatic steatosis driven by metabolic disturbances to those with hepatic steatosis associated with the rs738409 GG genotype in the patatin-like phospholipase domain-containing 3 gene (PNPLA3)...
December 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28010956/central-tegmentum-tract-hyperintensities-in-pediatric-neurological-patients-incidence-or-coincidence
#18
Uğur Işık, Alp Dinçer
AIM: The central tegmental tract hyperintensities (CTTH) have been found in many different pediatric neurological conditions. There is only scarce data about the value of this radiological phenomenon. In this study we aimed to show the neurological conditions associated with this radiological finding. MATERIALS AND METHODS: We performed a retrospective analysis of all pediatric brain MRI's between 2013 and 2015. After finding those patients with CTTH, we evaluated them in the pediatric neurology clinic...
December 20, 2016: Brain & Development
https://www.readbyqxmd.com/read/28008453/association-of-vdbp-and-cyp2r1-gene-polymorphisms-with-vitamin-d-status-in-women-with-polycystic-ovarian-syndrome-a-north-indian-study
#19
Deepa Haldar, Nitin Agrawal, Seema Patel, Pankaj Ramrao Kambale, Kanchan Arora, Aditi Sharma, Manish Tripathi, Aruna Batra, Bhaskar C Kabi
PURPOSE: Polycystic ovarian syndrome (PCOS) is the most common endocrine abnormality among women of reproductive age and is usually associated with oligo-ovulation/anovulation, obesity, and insulin resistance. Hypovitaminosis D may also be a primary factor in the initiation and development of PCOS. However, little is known about the role of genetic variation in vitamin D metabolism in PCOS aetiology. Therefore, we studied the genetic polymorphisms of CYP2R1 and vitamin D binding protein (VDBP) in an Indian population...
December 23, 2016: European Journal of Nutrition
https://www.readbyqxmd.com/read/28007570/dysfunctional-oleoylethanolamide-signaling-in-a-mouse-model-of-prader-willi-syndrome
#20
Miki Igarashi, Vidya Narayanaswami, Virginia Kimonis, Pietro M Galassetti, Fariba Oveisi, Kwang-Mook Jung, Daniele Piomelli
Prader-Willi syndrome (PWS), the leading genetic cause of obesity, is characterized by a striking hyperphagic behavior that can lead to obesity, type-2 diabetes, cardiovascular disease and death. The molecular mechanism underlying impaired satiety in PWS is unknown. Oleoylethanolamide (OEA) is a lipid mediator involved in the control of feeding, body weight and energy metabolism. OEA produced by small-intestinal enterocytes during dietary fat digestion activates type-α peroxisome proliferator-activated receptors (PPAR-α) to trigger an afferent signal that causes satiety...
December 19, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
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