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Genetics of Metabolic Syndrome

Caroline L Benn, Pinky Dua, Rachel Gurrell, Peter Loudon, Andrew Pike, R Ian Storer, Ciara Vangjeli
Gout is the most common form of inflammatory arthritis and is a multifactorial disease typically characterized by hyperuricemia and monosodium urate crystal deposition predominantly in, but not limited to, the joints and the urinary tract. The prevalence of gout and hyperuricemia has increased in developed countries over the past two decades and research into the area has become progressively more active. We review the current field of knowledge with emphasis on active areas of hyperuricemia research including the underlying physiology, genetics and epidemiology, with a focus on studies which suggest association of hyperuricemia with common comorbidities including cardiovascular disease, renal insufficiency, metabolic syndrome and diabetes...
2018: Frontiers in Medicine
Nienke M van Loon, Roelof Ottenhoff, Sander Kooijman, Martina Moeton, Saskia Scheij, Reinout L P Roscam Abbing, Marion J J Gijbels, Johannes H M Levels, Vincenzo Sorrentino, Jimmy F P Berbée, Patrick C N Rensen, Noam Zelcer
OBJECTIVE: The E3 ubiquitin ligase IDOL (inducible degrader of the LDLR [LDL (low-density lipoprotein) receptor]) is a post-transcriptional regulator of LDLR abundance. Model systems and human genetics support a role for IDOL in regulating circulating LDL levels. Whether IDOL plays a broader metabolic role and affects development of metabolic syndrome-associated comorbidities is unknown. APPROACH AND RESULTS: We studied WT (wild type) and Idol ( -/ - ) (Idol-KO) mice in 2 models: physiological aging and diet-induced obesity...
June 14, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
Ge Li, Dan Feng, Yonghui Wang, Junling Fu, Lanwen Han, Lujiao Li, Struan F A Grant, Mingyao Li, Ming Li, Shan Gao
Left ventricular mass index (LVMI) provides a metric for cardiovascular disease risk. We aimed to assess the association of adiponectin-related genetic variants resulting from GWAS in East Asians (loci in/near CDH13, ADIPOQ, WDR11FGF, CMIP and PEPD) with LVMI, and to examine whether sleep duration modified these genetic associations in youth. The 559 subjects aged 15-28 years were recruited from the Beijing Child and Adolescent Metabolic Syndrome study. Among the six loci, CDH13 rs4783244 was significantly correlated with adiponectin levels (p = 8...
June 12, 2018: EBioMedicine
Xuejun Yang, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li
Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis...
2018: Frontiers in Pediatrics
Ryan Centini, Mark Tsang, Terri Iwata, Heon Park, Jeffrey Delrow, Daciana Margineantu, Brandon M Iritani, Haiwei Gu, H Denny Liggitt, Janella Kang, Lim Kang, David M Hockenbery, Daniel Raftery, Brian M Iritani
Birt-Hogg-Dube' Syndrome (BHDS) is a rare genetic disorder in humans characterized by skin hamartomas, lung cysts, pneumothorax, and increased risk of renal tumors. BHDS is caused by mutations in the BHD gene, which encodes for Folliculin, a cytoplasmic adapter protein that binds to Folliculin interacting proteins-1 and -2 (Fnip1, Fnip2) as well as the master energy sensor AMP kinase (AMPK). Whereas kidney-specific deletion of the Bhd gene in mice is known to result in polycystic kidney disease (PKD) and renal cell carcinoma, the roles of Fnip1 in renal cell development and function are unclear...
2018: PloS One
Theodora Pappa, Samuel Refetoff
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by reduced responsiveness of peripheral tissues to thyroid hormone (TH). Affected individuals have consistently high TH levels and non-suppressed thyrotropin in the absence of acute illness, drugs, or alterations in TH binding proteins. Depending on the tissue, features of TH excess and deficiency may coexist, although most individuals have a euthyroid, normal metabolic state at the expense of high TH levels. In most cases the disorder is associated with germline mutations in the THRB gene...
2018: Methods in Molecular Biology
Carmen Priolo, Damir Khabibullin, Ed Reznik, Harilaos Filippakis, Barbara Ogórek, Taylor R Kavanagh, Julie Nijmeh, Zachary T Herbert, John M Asara, David J Kwiatkowski, Chin-Lee Wu, Elizabeth P Henske
Chromophobe renal cell carcinoma (ChRCC) accounts for 5% of all sporadic renal cancers and can also occur in genetic syndromes including Birt-Hogg-Dube (BHD) and tuberous sclerosis complex (TSC). ChRCC has a distinct accumulation of abnormal mitochondria, accompanied by characteristic chromosomal imbalances and relatively few "driver" mutations. Metabolomic profiling of ChRCC and oncocytomas (benign renal tumors that share pathological features with ChRCC) revealed both similarities and differences between these tumor types, with principal component analysis (PCA) showing a distinct separation...
June 11, 2018: Proceedings of the National Academy of Sciences of the United States of America
Mohsen Azimi-Nezhad, Seyed Reza Mirhafez, Maria G Stathopoulou, Helena Murray, Ndeye Coumba Ndiaye, Abdollah Bahrami, Abdoreza Varasteh, Amir Avan, Amelie Bonnefond, Marc Rancier, Hassan Mehrad-Majd, Bernard Herbeth, John Lamont, Peter Fitzgerald, Gordon A Ferns, Sophie Visvikis-Siest, Majid Ghayour-Mobarhan
BACKGROUND: We have investigated the association between 4 cis- and trans-genetic variants (rs6921438, rs4416670, rs6993770 and rs10738760) of the vascular endothelial growth factor (VEGF) gene and metabolic syndrome (MetS) and its individual components in an Iranian population. MATERIAL & METHOD: Three hundred and thirty-six subjects were enrolled and MetS was defined according to the International-Diabetes-Federation (IDF) criteria. Genotyping was carried out in all the individuals for 4 VEGF genetic variants using an assay based on a combination of multiplex polymerase chain reaction and biochip array hybridization...
June 2018: American Journal of the Medical Sciences
An Boudewyns, Jenneke van den Ende, Manou Sommen, Wim Wuyts, Nils Peeters, Paul Van de Heyning, Guy Van Camp
OBJECTIVES: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Fifty children with congenital, bilateral profound hearing loss (HL) (>90 dBnHL). INTERVENTIONS: Etiological work-up included testing for pathogenic variants in GJB2, a phenotype driven genetic analysis, screening for congenital infections and imaging...
July 2018: Otology & Neurotology
Mana Taweevisit, Paul S Thorner
Many anatomic pathology laboratories no longer have electron microscopy facilities. A retrospective review of autopsies was performed to identify cases of inborn errors of metabolism (IEM) and determine the contribution of electron microscopy in making the diagnosis in those cases. Over a period of 17 years, there were 900 perinatal and pediatric autopsies. There were 7 cases (1%) of IEM, including 4 cases of Pompe disease, 1 case of I-cell disease, 1 case of bile acid synthesis defect, and 1 case of mitochondrial disease (Leigh syndrome)...
January 1, 2018: Pediatric and Developmental Pathology
Marwan El Ghoch, Paola Vittoria Bazzani, Simona Calugi, Riccardo Dalle Grave
Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy expenditure-an unfavourable condition that facilitates the development of obesity. However, weight management of these patients remains poorly described. Hence, the aim of this case report was to describe the clinical presentation and weight management of a 31-year-old male patient with spinal muscular atrophy type III, class I obesity, and metabolic syndrome treated for 1 year by means of a personalised multistep cognitive-behavioural treatment for obesity...
2018: Case Reports in Medicine
Alice J Sharpe, Matthew McKenzie
Mitochondrial fatty acid β-oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in liver, heart and skeletal muscle energy homeostasis. FAO is particularly important during times of fasting when glucose supply is limited, providing energy for many organs and tissues, including the heart, liver and brain. Deficiencies in FAO can cause life-threatening metabolic disorders in early childhood that present with liver dysfunction, hypoglycemia, dilated hypertrophic cardiomyopathy and Reye-like Syndrome...
May 23, 2018: Cells
Yasuaki Tatsumi, Ayako Kato, Koichi Kato, Hisao Hayashi
AIM: Iron and copper are trace elements essential for health, and iron metabolism is tightly regulated by cuproproteins. Clarification of the interactions between iron and copper may provide a better understanding of the pathophysiology and treatment strategy for hemochromatosis, Wilson disease, and related disorders. METHODS: The hepcidin/ferroportin system was used to classify genetic iron overload syndromes in Japan, and ceruloplasmin and ATP7B were introduced for subtyping Wilson disease into the severe hepatic and classical forms...
June 7, 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
Edouard J Servy, Laetitia Jacquesson-Fournols, Marc Cohen, Yves J R Menezo
PURPOSE: To evaluate the possibility of correcting metabolic defects in gametes and embryos due to methylene tetra hydrofolate reductase (MTHFR) isoforms C677T and A1298C, by supplementation with 5-methyl THF instead of synthetic folic acid. In these couples, high doses of folic acid lead to UMFA (un-metabolized folic acid) syndrome. METHODS: Thirty couples with fertility problems lasting for at least 4 years, such as recurrent fetal loss, premature ovarian insufficiency, or abnormal sperm parameters, with two thirds of them having failed assisted reproductive technology (ART) attempts were included in this program...
June 7, 2018: Journal of Assisted Reproduction and Genetics
Seda Salar, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the patients have structural, metabolic, genetic, or infectious etiologies and, in the rest, the etiology is unknown. Here we review the contribution of etiologies due to various metabolic disorders in the pathology of WS...
June 2018: Epilepsia Open
Monica Centa, Kajsa E Prokopec, Manasa G Garimella, Katrin Habir, Lisa Hofste, Julian M Stark, Albert Dahdah, Chris A Tibbit, Konstantinos A Polyzos, Anton Gisterå, Daniel K Johansson, Nobuyo N Maeda, Göran K Hansson, Daniel F J Ketelhuth, Jonathan M Coquet, Christoph J Binder, Mikael C I Karlsson, Stephen Malin
OBJECTIVE: Dyslipidemia is a component of the metabolic syndrome, an established risk factor for atherosclerotic cardiovascular disease, and is also observed in various autoimmune and chronic inflammatory conditions. However, there are limited opportunities to study the impact of acquired dyslipidemia on cardiovascular and immune pathology. APPROACH AND RESULTS: We designed a model system that allows for the conversion to a state of acute hyperlipidemia in adult life, so that the consequences of such a transition could be observed, through conditionally deleting APOE (apolipoprotein E) in the adult mouse...
June 7, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
Kei Takasawa, Atsumi Tsuji-Hosokawa, Shigeru Takishima, Yasunori Wada, Keisuke Nagasaki, Sumito Dateki, Chikahiko Numakura, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Kashimada, Tomohiro Morio
BACKGROUND: Type A insulin resistance (IR) is a rare form of severe congenital IR that is frequently caused by heterozygous mutations in the insulin receptor (INSR) gene. Although type A IR requires appropriate intervention from the early stages of diabetes, proper diagnosis of this disease is challenging, and accumulation of cases with detailed clinical profiles and genotypes is required. METHODS: We report six peripubertal cases with clinically diagnosed type A IR, including four cases with an identified INSR mutation...
June 6, 2018: Journal of Diabetes
Laura Stimson, Tim Reynolds
Doctors will often see patients with chronic hypokalaemia, frequently this is secondary to gastrointestinal losses, diuretics or renal disease. However, in this case report we review a rarer cause of chronic hypokalaemia-Gitelman syndrome (GS).GS is an uncommon genetic disorder which causes primary renal tubular hypokalaemic metabolic alkalosis with secondary hypomagnesaemia and hypocalciuria. Although rare, it is important to remember GS when considering differential diagnoses for chronic hypokalaemia. We report the case of a woman who presented to the ophthalmology department with sclerochoroidal calcification...
June 5, 2018: BMJ Case Reports
Binu V John, Taylor Aiken, Ari Garber, Dawn Thomas, Rocio Lopez, Deepa Patil, Venkata Rajesh Konjeti, John J Fung, Arthur J McCollough, Medhat Askar
OBJECTIVES: De novo steatosis after liver transplant is common and can occur in up to one-third of patients who are transplanted for liver disease other than for nonalcoholic fatty liver disease. Genetic factors may influence posttransplant steatosis; in a posttransplant setting, donor or recipient genetic factors could also play roles. Genetic polymorphisms in the adiponectin gene have been associated with metabolic syndrome in the pretransplant setting. We aimed to assess the association between donor and recipient adiponectin polymorphisms and early posttransplant hepatic steatosis identified on liver biopsies...
June 1, 2018: Experimental and Clinical Transplantation
Kadi Veri, Inga Talvik, Ulvi Vaher, Aita Napa, Pilvi Ilves, Oivi Uibo, Eve Õiglane-Shlik, Rael Laugesaar, Reet Rein, Anneli Kolk, Klari Noormets, Tiia Reimand, Katrin Õunap, Tiina Talvik
The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000. The incidence rate was the highest (141.9/100 000) in the age group from 5 to 9 years. Specific electroclinical syndromes were identified in 22.8% of cases. Structural or metabolic etiology was identified in 20.0% of cases, presumed genetic origin was identified in 33...
January 1, 2018: Journal of Child Neurology
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