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obesity and genetic mutations

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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
#1
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/29150108/economy-class-syndrome-what-is-it-and-who-are-the-individuals-at-risk
#2
Luci Maria SantAna Dusse, Marcos Vinícius Ferreira Silva, Letícia Gonçalves Freitas, Milena Soriano Marcolino, Maria das Graças Carvalho
The term 'economy class syndrome' refers to the occurrence of thrombotic events during long-haul flights that mainly occur in passengers in the economy class of the aircraft. This syndrome results from several factors related to the aircraft cabin (immobilization, hypobaric hypoxia and low humidity) and the passenger (body mass index, thrombophilia, oral contraceptives or hormone replacement therapy, cancer), acting together to predispose to excessive blood coagulation, which can result in venous thromboembolism...
October 2017: Revista Brasileira de Hematologia e Hemoterapia
https://www.readbyqxmd.com/read/29128060/risk-factors-for-the-development-of-nonalcoholic-fatty-liver-disease-nonalcoholic-steatohepatitis-including-genetics
#3
REVIEW
Huei-Wen Lim, David E Bernstein
Nonalcoholic fatty liver disease is emerging as the most common cause of chronic liver disease worldwide. This trend is, in part, secondary, to the growing incidence of obesity, type 2 diabetes, and metabolic syndrome. Other risk factors include age, gender, race/ethnicity, genetic predisposition, and polycystic ovarian disease. With the introduction of genome-wide association studies, genetic mutations contributing to inherited susceptibility to steatosis have been identified, which hold keys to future improvement in diagnosis and management...
February 2018: Clinics in Liver Disease
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#4
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29107289/disruption-of-the-homeodomain-transcription-factor-orthopedia-homeobox-otp-is-associated-with-obesity-and-anxiety
#5
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the development of severe obesity in a mouse line identified as part of a dominant N-ethyl-N-nitrosourea (ENU) mutagenesis screen. We characterized the metabolic and behavioral phenotype of obese mutant mice and examined changes in hypothalamic gene expression...
November 2017: Molecular Metabolism
https://www.readbyqxmd.com/read/29106450/a-novel-experimental-model-for-human-mixed-acinar-ductal-pancreatic-cancer
#6
Bruno Doiron, Ralph A DeFronzo
Pancreatic cancer has remained refractory to treatment. In large part, this results from the lack of an animal model that mimics pancreatic cancer in man. We describe a novel experimental model of pancreatic cancer that shares the genetic background, histologic features, and natural history of human mixed acinar-ductal carcinoma. Adult wild-type mice received an injection into the pancreatic duct of lentivirus coding two molecules, KrasG12D mutation and shRNA p53, which recapitulate the mechanisms of pancreatic cancer in humans...
November 2, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/29106398/asprosin-is-a-centrally-acting-orexigenic-hormone
#7
Clemens Duerrschmid, Yanlin He, Chunmei Wang, Chia Li, Juan C Bournat, Chase Romere, Pradip K Saha, Mark E Lee, Kevin J Phillips, Mahim Jain, Peilin Jia, Zhongming Zhao, Monica Farias, Qi Wu, Dianna M Milewicz, V Reid Sutton, David D Moore, Nancy F Butte, Michael J Krashes, Yong Xu, Atul R Chopra
Asprosin is a recently discovered fasting-induced hormone that promotes hepatic glucose production. Here we demonstrate that asprosin in the circulation crosses the blood-brain barrier and directly activates orexigenic AgRP(+) neurons via a cAMP-dependent pathway. This signaling results in inhibition of downstream anorexigenic proopiomelanocortin (POMC)-positive neurons in a GABA-dependent manner, which then leads to appetite stimulation and a drive to accumulate adiposity and body weight. In humans, a genetic deficiency in asprosin causes a syndrome characterized by low appetite and extreme leanness; this is phenocopied by mice carrying similar mutations and can be fully rescued by asprosin...
November 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29090343/epidemiological-genetic-and-clinical-characterization-by-age-of-newly-diagnosed-acute-myeloid-leukemia-based-on-an-academic-population-based-registry-study-amlsg-bio
#8
Gabriele Nagel, D Weber, E Fromm, S Erhardt, M Lübbert, W Fiedler, T Kindler, J Krauter, P Brossart, A Kündgen, H R Salih, J Westermann, G Wulf, B Hertenstein, M Wattad, K Götze, D Kraemer, T Heinicke, M Girschikofsky, H G Derigs, H A Horst, C Rudolph, M Heuser, G Göhring, V Teleanu, L Bullinger, F Thol, V I Gaidzik, P Paschka, K Döhner, A Ganser, Hartmut Döhner, R F Schlenk
We describe genetic and clinical characteristics of acute myeloid leukemia (AML) patients according to age from an academic population-based registry. Adult patients with newly diagnosed AML at 63 centers in Germany and Austria were followed within the AMLSG BiO registry (NCT01252485). Between January 1, 2012, and December 31, 2014, data of 3525 patients with AML (45% women) were collected. The median age was 65 years (range 18-94). The comparison of age-specific AML incidence rates with epidemiological cancer registries revealed excellent coverage in patients < 70 years old and good coverage up to the age of 80...
October 31, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/29090233/common-variations-in-perilipin-rs1052700-and-fto-rs3751812-gene-variants-and-risk-for-obesity-and-type-2-diabetes
#9
Ramin Saravani, Hamid Reza Galavi, Nafiseh Noorzehi, Nasrin Ranjbar, Fatemeh Mollashahee-Kohkan
BACKGROUND: Perilipins are proteins that coat lipid globules in adipocytes, which are steroid-generating cells that play a central role in lipid storage and breakdown. The FTO gene is associated with type-2 diabetes (T2D) and increased fat mass. In this work the association of perilipin and FTO gene polymorphisms in T2D was investigated. METHODS: One hundred eighty-three Iranian men and women with T2D, and 174 healthy controls with no known metabolic diseases, participated in the study...
October 2017: Reports of Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29082112/mitophagy-and-mitochondrial-quality-control-mechanisms-in-the-heart
#10
Roberta A Gottlieb, Amandine Thomas
PURPOSE OF REVIEW: Mitochondrial homeostasis and quality control are essential to maintenance of cardiac function and a disruption of this pathway can lead to deleterious cardiac consequences. RECENT FINDINGS: Mitochondrial quality control has been described as a major homeostatic mechanism in cell. Recent studies highlighted that an impairment of mitochondrial quality control in different cell or mouse models is linked to cardiac dysfunction. Moreover, some conditions as aging, genetic mutations or obesity have been associated with mitochondrial quality control alteration leading to an accumulation of damaged mitochondria responsible for increased production of reactive oxygen species, metabolic inflexibility, and inflammation, all of which can have sustained effects on cardiac cell function and even cell death...
June 2017: Current Pathobiology Reports
https://www.readbyqxmd.com/read/29079305/kras-yap-and-obesity-in-pancreatic-cancer-a-signaling-network-with-multiple-loops
#11
REVIEW
Guido Eibl, Enrique Rozengurt
Pancreatic ductal adenocarcinoma (PDAC) continues to be a lethal disease with no efficacious treatment modalities. The incidence of PDAC is expected to increase, at least partially because of the obesity epidemic. Increased efforts to prevent or intercept this disease are clearly needed. Mutations in KRAS are initiating events in pancreatic carcinogenesis supported by genetically engineered mouse models of the disease. However, oncogenic KRAS is not entirely sufficient for the development of fully invasive PDAC...
October 24, 2017: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29079180/mixed-endometrial-carcinomas-with-a-low-grade-serous-like-component-a-clinicopathologic-immunohistochemical-and-molecular-genetic-study
#12
Iñigo Espinosa, Emanuela D'Angelo, Marina Corominas, Alan Gonzalez, Jaime Prat
Recently, we reported 2 mixed endometrioid endometrial carcinomas with a low-grade serous-like component which doesn't fit into any of the 4 molecular groups described by The Cancer Genome Atlas (TCGA). In order to understand the nature of these tumors, we have done an immunohistochemical and molecular genetic study of these two cases and added a third case. Immunoreactivity for p53, ER, Ki67, WT1, MLH1, PMS2, MSH2, and MSH6 were assessed. Targeted next-generation sequencing for somatic mutations, including genes commonly implicated in carcinogenesis including TP53, KRAS, and PIK3CA, and Sanger sequencing for PTEN and POLE were also performed...
October 24, 2017: Human Pathology
https://www.readbyqxmd.com/read/29077558/-the-genetics-of-obesity-pathogenetic-clinical-and-diagnostic-aspects
#13
Artur Barczyk, Anna Kutkowska-Kaźmierczak, Jennifer Castañeda, Ewa Obersztyn
Due to its prevalence and its health-related, economic and social consequences, childhood and adult obesity is a complex, medical and civilizational problem, which has been on the increase in the last decade. The results of multi-center investigations reveal that genetic factors play an essential role in the etiopathogenesis of obesity, particularly in the case of extreme cases with very early onset. The Body Mass Index (BMI) is one of the most frequently used indicators of obesity and shows a strong genetic component with a 40-70% degree of heritability...
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/29068064/familial-acanthosis-nigricans-with-p-k650t-fgfr3-mutation
#14
Kensuke Fukuchi, Kazuki Tatsuno, Kayo Matsushita, Akiharu Kubo, Taisuke Ito, Yoshiki Tokura
Acanthosis nigricans (AN) is a pigmentary skin disorder, which may present in association with clinical disorders such as obesity and malignancy. Occasionally, this unique skin manifestation is seen in alliance with several skeletal disorders, such Crouzon syndrome, achondroplasia and hypochondroplasia (HCH). These orthopedic disorders are known to have genetic changes in FGFR3. Recently, AN was reported in HCH with p.K650T mutation in FGFR3, and to date, there are only three reports, comprising 18 cases, describing AN harboring this specific gene mutation...
October 25, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/29059722/genome-wide-association-study-reveals-genetic-loci-and-candidate-genes-for-average-daily-gain-in-duroc-pigs
#15
Jianping Quan, Rongrong Ding, Xingwang Wang, Ming Yang, Yang Yang, Enqin Zheng, Ting Gu, Gengyuan Cai, Zhenfang Wu, Dewu Liu, Jie Yang
Objective: Average daily gain (ADG) is an important target trait of pig breeding programs. We aimed to identify single nucleotide polymorphisms (SNPs) and genomic regions that are associated with ADG in the Duroc pig population. Methods: We performed a genome-wide association study involving 390 Duroc boars and by using the PorcineSNP60K Beadchip and two linear models. Results: After quality control, we detected 35971 SNPs, which included seven SNPs that are significantly associated with the ADG of pigs...
October 20, 2017: Asian-Australasian Journal of Animal Sciences
https://www.readbyqxmd.com/read/29049287/bbsome-function-is-required-for-both-the-morphogenesis-and-maintenance-of-the-photoreceptor-outer-segment
#16
Ying Hsu, Janelle E Garrison, Gunhee Kim, Addison R Schmitz, Charles C Searby, Qihong Zhang, Poppy Datta, Darryl Y Nishimura, Seongjin Seo, Val C Sheffield
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary trafficking) can be temporally inactivated or restored...
October 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29026529/coordinating-erk-signaling-via-the-molecular-scaffold-kinase-suppressor-of-ras
#17
REVIEW
Danielle Frodyma, Beth Neilsen, Diane Costanzo-Garvey, Kurt Fisher, Robert Lewis
Many cancers, including those of the colon, lung, and pancreas, depend upon the signaling pathways induced by mutated and constitutively active Ras. The molecular scaffolds Kinase Suppressor of Ras 1 and 2 (KSR1 and KSR2) play potent roles in promoting Ras-mediated signaling through the Raf/MEK/ERK kinase cascade. Here we summarize the canonical role of KSR in cells, including its central role as a scaffold protein for the Raf/MEK/ERK kinase cascade, its regulation of various cellular pathways mediated through different binding partners, and the phenotypic consequences of KSR1 or KSR2 genetic inactivation...
2017: F1000Research
https://www.readbyqxmd.com/read/28967604/-neonatal-presentation-of-prader-willi-syndrome-a-report-of-five-cases
#18
B Richard-De Ceaurriz, C Leymarie, A Godefroy, P Collignon, S Sigaudy, P Truc
Prader-Willi syndrome (PWS) is a fingerprint disease caused by the loss of paternally inherited chromosome 15q11.2-q13. In several populations studied, prevalence is estimated to be from 1/10,000 to 1/25,000 births. The disease initially manifests by neonatal hypotonia associated with orality disorders. Secondly, hyperphagia appears with significant obesity and hypogonadism. Motor milestones and language development are delayed, and all individuals have variable degrees of cognitive disability during childhood...
November 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28953935/association-of-mttp-gene-variants-with-pediatric-nafld-a-candidate-gene-based-analysis-of-single-nucleotide-variations-in-obese-children
#19
Dongling Dai, Feiqiu Wen, Shaoming Zhou, Zhe Su, Guosheng Liu, Mingbang Wang, Jianli Zhou, Fusheng He
OBJECTIVE: We used targeted next-generation sequencing to investigate whether genetic variants of lipid metabolism-related genes are associated with increased susceptibility to nonalcoholic fatty liver disease (NAFLD) in obese children. METHODS: A cohort of 100 obese children aged 6 to 18 years were divided into NAFLD and non-NAFLD groups and subjected to hepatic ultrasound, anthropometric, and biochemical analyses. We evaluated the association of genetic variants with NAFLD susceptibility by investigating the single nucleotide polymorphisms in each of 36 lipid-metabolism-related genes...
2017: PloS One
https://www.readbyqxmd.com/read/28951511/young-girl-with-severe-early-onset-obesity-and-hyperphagia
#20
Lotte Kleinendorst, Mieke M van Haelst, Erica L T van den Akker
This case report of an infant with severe early-onset obesity illustrates the societal condemnation of persons with obesity. In addition, it underlines the importance of diagnosing rare forms of monogenic obesity, even if no drug treatment is available. Here, we describe a 2-year-old girl with severe progressive obesity from birth onwards due to insatiable hunger. Genetic studies eventually reveal that the girl has a monogenic form of obesity caused by two mutations in the LEPR gene. No drug treatment is available (as yet) for this disease...
September 25, 2017: BMJ Case Reports
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