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Genetics of Metabolic Syndrome

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https://www.readbyqxmd.com/read/28432467/renal-skin-syndromes
#1
REVIEW
Cristina Has, Yinghong He
Renal-skin syndroms are a group of genetic disorders with renal and cutaneous manifestations that target molecular components present in both organs. Inherited renal-skin syndromes are mainly associated with defects of cell-matrix adhesion. We provide a non-exhaustive overview of the main molecular players at cell-matrix adhesions in mouse models and in human genetic disorders affecting kidney and skin. Renal and urinary tract involvement is described in all four major epidermolysis bullosa types and, in particular, in junctional subtypes and in recessive dystrophic epidermolysis bullosa...
April 22, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#2
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28424556/nonalcoholic-steatohepatitis-related-hepatocellular-carcinoma-is-there-a-role-for-the-androgen-receptor-pathway
#3
REVIEW
Mahmoud A Ali, Sahin Lacin, Reham Abdel-Wahab, Mark Uemura, Manal Hassan, Asif Rashid, Dan G Duda, Ahmed O Kaseb
The epidemic of insulin resistance, obesity, and metabolic syndrome has led to the emergence of nonalcoholic steatohepatitis (NASH) as the most common cause of liver disease in the US. Patients with NASH are at an increased risk for hepatic disease-related morbidity and death, and chronic inflammation in NASH patients can lead to hepatocellular carcinoma (HCC). The prevalence of HCC is higher in males than in females, and genetic studies have identified androgen and androgen receptors (ARs) as partially responsible for the gender disparity in the development of liver disease and HCC...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28422960/predicting-the-impact-of-lynch-syndrome-causing-missense-mutations-from-structural-calculations
#4
Sofie V Nielsen, Amelie Stein, Alexander B Dinitzen, Elena Papaleo, Michael H Tatham, Esben G Poulsen, Maher M Kassem, Lene J Rasmussen, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen
Accurate methods to assess the pathogenicity of mutations are needed to fully leverage the possibilities of genome sequencing in diagnosis. Current data-driven and bioinformatics approaches are, however, limited by the large number of new variations found in each newly sequenced genome, and often do not provide direct mechanistic insight. Here we demonstrate, for the first time, that saturation mutagenesis, biophysical modeling and co-variation analysis, performed in silico, can predict the abundance, metabolic stability, and function of proteins inside living cells...
April 19, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28420495/fetal-programming-of-the-metabolic-syndrome
#5
REVIEW
Aleksandra Marciniak, Jolanta Patro-Małysza, Żaneta Kimber-Trojnar, Beata Marciniak, Jan Oleszczuk, Bożena Leszczyńska-Gorzelak
Prenatal development is currently recognized as a critical period in the etiology of human diseases. This is particularly so when an unfavorable environment interacts with a genetic predisposition. The fetal programming concept suggests that maternal nutritional imbalance and metabolic disturbances may have a persistent and intergenerational effect on the health of offspring and on the risk of diseases such as obesity, diabetes, and cardiovascular diseases.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28414188/a-case-of-splenomegaly-in-cbl-syndrome
#6
Rachel R Coe, Margaret L McKinnon, Maja Tarailo-Graovac, Colin J Ross, Wyeth W Wasserman, Jan M Friedman, Paul C Rogers, Clara D M van Karnebeek
INTRODUCTION: We present a child with unexplained splenomegaly to highlight this feature as a presenting sign of the RASopathy CBL syndrome and to draw attention to the power and utility of next generation genomic sequencing for providing rapid diagnosis and critical information to guide care in the pediatric clinical setting. CLINICAL REPORT: A 7-year-old boy presented with unexplained splenomegaly, attention deficit hyperactivity disorder, mild learning difficulties, easy bruising, mild thrombocytopenia, and subtle dysmorphic features...
April 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28411833/atopic-dermatitis-and-comorbidities-added-value-of-comprehensive-dermatoepidemiology
#7
Tamar Nijsten
Atopic dermatitis is common and in its severe form is devastating. This chronic inflammatory dermatosis is part of the atopic syndrome, which includes asthma, food allergies, and hay fever and is known to be associated with mental health disorders. In line with psoriasis, several recent observational studies using national survey and linkage data have suggested a link between atopic dermatitis and cardiovascular disease. The atopic dermatitis field can benefit from the past experiences in psoriasis research and should not follow the same path, but, rather, aim for a more comprehensive approach from the beginning...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28408884/effect-of-cyp3a4-%C3%A2-1g-and-cyp3a5-%C3%A2-3-polymorphisms-on-pharmacokinetics-and-pharmacodynamics-of-ticagrelor-in-healthy-chinese-subjects
#8
Shuaibing Liu, Xiangfen Shi, Xin Tian, Xiaojian Zhang, Zhiyong Sun, Liyan Miao
Ticagrelor is the first reversible, direct-acting, potent P2Y12 receptor antagonist in management of acute coronary syndromes. It is rapidly absorbed and extensively metabolized. AR-C124910XX, the major active metabolite, antagonizes the P2Y12 receptor at approximately equal potency. The metabolism of ticagrelor to AR-C124910XX involves CYP3A4 and CYP3A5. CYP3A polymorphisms have been well documented, and CYP3A4(∗)1G (g.20230G>A, rs2242480) and CYP3A5(∗)3 (g.6986A>G, rs776746) are the most important single nucleotide polymorphisms in Chinese...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28408709/heritability-of-the-severity-of-the-metabolic-syndrome-in-whites-and-blacks-in-3-large-cohorts
#9
Solomon K Musani, Lisa J Martin, Jessica G Woo, Michael Olivier, Matthew J Gurka, Mark D DeBoer
BACKGROUND: Although dichotomous criteria for the metabolic syndrome (MetS) appear heritable, it is not known whether MetS severity as assessed by a continuous MetS score is heritable and whether this varies by race. METHODS AND RESULTS: We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of Adult Treatment Panel-III MetS and a sex- and race-specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 black participants), TOPS (Take Off Pounds Sensibly, 1947 white participants), and PLRS (Princeton Lipid Research Study, 229 black and 527 white participants)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28407523/glut1-deficiency-syndrome-report-of-a-four-generation-norwegian-family-with-a-mild-phenotype
#10
Anette Ramm-Pettersen, Karl O Nakken, Kathrine C Haavardsholm, Kaja Kristine Selmer
INTRODUCTION: Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is a rare metabolic encephalopathy with a wide variation of clinical phenotypes. Familial variants are often milder than de novo cases, and may therefore remain undiagnosed. The aim of this study was to characterize the clinical course of GLUT1-DS in a four-generation Norwegian family where the oldest generations had never received any treatment. METHOD: Through interviews and clinical investigations, we characterized a family of 26 members, where 11 members had symptoms strongly suggesting GLUT1-DS...
April 10, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28406046/depdc5-as-a-potential-therapeutic-target-for-epilepsy
#11
Kenneth A Myers, Ingrid E Scheffer
Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-activating proteins towards Rags 1 (GATOR1) complex. GATOR1 is a recently identified modulator of mechanistic target of rapamycin (mTOR) activity. mTOR is a key regulator of cell proliferation and metabolism; disruption of the mTOR pathway is implicated in focal epilepsy, both acquired and genetic. Tuberous sclerosis is the prototypic mTOR genetic syndrome with epilepsy, however GATOR1 gene mutations have recently been shown to cause lesional and non-lesional focal epilepsy...
April 13, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28405733/association-of-il-1%C3%AE-il-1ra-and-fabp1-gene-polymorphisms-with-the-metabolic-features-of-polycystic-ovary-syndrome
#12
Nadia Rashid, Aruna Nigam, Pikee Saxena, S K Jain, Saima Wajid
BACKGROUND: Polycystic ovary syndrome (PCOS), a highly prevalent endocrinopathy is currently being designated as chronic low grade inflammatory state. IL-1β, IL-1Ra and FABP1 are critical mediators of inflammatory processes and are speculated to play a role in the pathogenesis of PCOS. The aim of this study was to study the association of IL-β, IL-1Ra and FABP1 gene polymorphisms with PCOS and related metabolic features. SUBJECTS: 95 PCOS and 45 age matched healthy control subjects were enrolled in this study...
April 12, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28404070/pathophysiology-of-irritable-bowel-syndrome
#13
REVIEW
Gerald J Holtmann, Alexander C Ford, Nicholas J Talley
Traditionally, irritable bowel syndrome has been considered to be a disorder with no known underlying structural or biochemical explanation, but this concept is likely to be outdated. In this Review we challenge the widely accepted view that irritable bowel syndrome is an unexplained brain-gut disorder. There is epidemiological evidence that, in a major subset of patients, gastrointestinal symptoms arise first and only later do incident mood disorders occur. Additionally, possible mechanisms for gut-brain dysfunction have been identified, suggesting primary gut disturbances might be the underlying cause in a subgroup...
October 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28400302/decreased-comfort-food-intake-and-allostatic-load-in-adolescents-carrying-the-a3669g-variant-of-the-glucocorticoid-receptor-gene
#14
Danitsa Marcos Rodrigues, Roberta Sena Reis, Roberta Dalle Molle, Tania Diniz Machado, Amanda Brondani Mucellini, Andressa Bortoluzzi, Rudineia Toazza, Juliano Adams Pérez, Giovanni Abrahão Salum, Marilyn Agranonik, Luciano Minuzzi, Robert D Levitan, Augusto Buchweitz, Alexandre Rosa Franco, Gisele Gus Manfro, Patrícia Pelufo Silveira
BACKGROUND: The A3669G single nucleotide polymorphism (SNP) of the glucocorticoid receptor (GR) gene NR3C1 is associated with altered tissue sensitivity to glucocorticoids (GCs). GCs modulate the food reward circuitry and are implicated in increased intake of palatable foods, which can lead to the metabolic syndrome and obesity. We hypothesized that presence of the G variant of the A3669G SNP would affect preferences for palatable foods and alter metabolic, behavioural, and neural outcomes...
April 8, 2017: Appetite
https://www.readbyqxmd.com/read/28393390/a-novel-association-test-for-multiple-secondary-phenotypes-from-a-case-control-gwas
#15
Debashree Ray, Saonli Basu
In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but also collect extensive data on several risk factors and traits. Recent literature and grant proposals point toward a trend in reusing existing large case-control data for exploring genetic associations of some additional traits (secondary phenotypes, Y) collected during the study...
April 10, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/28392825/a-compound-heterozygous-mutation-in-the-fmo3-gene-the-first-pediatric-case-causes-fish-odor-syndrome-in-korea
#16
Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae
Trimethylaminuria (TMAuria), known as "fish odor syndrome," is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3). Most TMAuria cases are caused by missense mutations, but nonsense mutations have also been reported in these cases...
March 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28389692/familial-early-onset-paget-s-disease-of-bone-associated-with-a-novel-hnrnpa2b1-mutation
#17
Xuan Qi, Qianqian Pang, Jiawei Wang, Zhen Zhao, Ou Wang, Lijun Xu, Jiangfeng Mao, Yan Jiang, Mei Li, Xiaoping Xing, Wei Yu, Asan, Weibo Xia
Paget disease of bone (PDB) is a common metabolic bone disease characterized by increased bone resorption and disorganized bone formation which affect single or multiple sites of bones. Although the exact cause of PDB is still controversial, genetic factors are considered to play an important role in PDB. Several genes involved in the differentiation or function of osteoclast were shown to be associated with PDB or related syndrome such as SQSTM1, TNFRSF11A, TNFRSF11B, and ZNF687. Multisystem proteinopathy (MSP), a newly proposed syndrome including inclusion body myopathy (IBM), PDB, frontotemporal dementia (FTD), and amyotrophic lateral sclerosis (ALS), is mainly caused by mutation in VCP gene...
April 7, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28389660/characteristics-of-the-heme-catabolic-pathway-in-mild-unconjugated-hyperbilirubinemia-and-their-associations-with-inflammation-and-disease-prevention
#18
Christine Mölzer, Marlies Wallner, Carina Kern, Anela Tosevska, René Zadnikar, Daniel Doberer, Rodrig Marculescu, Karl-Heinz Wagner
Heme catabolism exerts physiological functions that impact health through depressing inflammation. Upon reactive pathway progression, as in Gilbert's Syndrome (GS; UGT1A1*28 polymorphism), aggravated health effects have been determined. Based on lower inflammation and improved metabolic health reported for GS, inter-group differences in heme catabolism were explored. Therefore, a case-control study including 120 fasted, healthy, age- and gender matched subjects with/without GS, was conducted. Genetic expressions of HMOX-1 and BLVRA were measured...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28389512/theoretical-and-biological-evaluation-of-the-link-between-low-exercise-capacity-and-disease-risk
#19
Lauren Gerard Koch, Steven L Britton
Large-scale epidemiological studies show that low exercise capacity is the highest risk factor for all-cause morbidity and mortality relative to other conditions including diabetes, hypertension, and obesity. This led us to formulate the energy transfer hypothesis (ETH): Variation in capacity for energy transfer is the central mechanistic determinant of the divide between disease and health. As a test of this hypothesis, we predicted that two-way selective breeding of genetically heterogeneous rats for low and high intrinsic treadmill running capacity (a surrogate for energy transfer) would also produce rats that differ for disease risks...
April 7, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28383714/a-systems-approach-identifies-time-dependent-associations-of-multimorbidities-with-pancreatic-cancer-risk
#20
P Gomez-Rubio, V Rosato, M Marquez, C Bosetti, E Molina-Montes, M Rava, J Piñero, C W Michalski, A Farré, X Molero, M Löhr, L Ilzarbe, J Perea, W Greenhalf, M O'Rorke, A Tardón, T Gress, V M Barberà, T Crnogorac-Jurcevic, L Muñoz-Bellvís, E Domínguez-Muñoz, A Gutiérrez-Sacristán, J Balsells, E Costello, C Guillén-Ponce, J Huang, M Iglesias, J Kleeff, B Kong, J Mora, L Murray, D O'Driscoll, P Peláez, I Poves, R T Lawlor, A Carrato, M Hidalgo, A Scarpa, L Sharp, L I Furlong, F X Real, C La Vecchia, N Malats
Background: HASH(0x32b0af0) Pancreatic ductal adenocarcinoma (PDAC) is usually diagnosed in late adulthood; therefore, many patients suffer or have suffered from other diseases. Identifying disease-patterns associated with PDAC risk may enable a better characterization of high-risk patients. Methods: HASH(0x403d4f8) Multimorbidity patterns (MPs) were assessed from 17 self-reported conditions using hierarchical clustering, principal component, and factor analyses in 1705 PDAC cases and 1084 controls from a European population...
April 5, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
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