keyword
MENU ▼
Read by QxMD icon Read
search

Metabolic genetics

keyword
https://www.readbyqxmd.com/read/29224189/acute-loss-of-adipose-tissue-derived-adiponectin-triggers-immediate-metabolic-deterioration-in-mice
#1
Jonathan Y Xia, Kai Sun, Chelsea Hepler, Alexandra L Ghaben, Rana K Gupta, Yu A An, William L Holland, Thomas S Morley, Andrew C Adams, Ruth Gordillo, Christine M Kusminski, Philipp E Scherer
AIM/HYPOTHESIS: Adiponectin (APN), a circulating hormone secreted by mature adipocytes, has been extensively studied because it has beneficial metabolic effects. While many studies have focused on the congenital loss of APN and its effects on systemic body glucose and lipid metabolism, little is known about the effects triggered by acute loss of APN in the adult mouse. We anticipated that genetically induced acute depletion of APN in adult mice would have a more profound effect on systemic metabolic health than congenital deletion of Adipoq, the gene encoding APN, with its associated potential for adaptive responses that may mask the phenotypes...
December 9, 2017: Diabetologia
https://www.readbyqxmd.com/read/29224096/origins-and-functions-of-the-ventrolateral-vmh-a-complex-neuronal-cluster-orchestrating-sex-differences-in-metabolism-and-behavior
#2
William C Krause, Holly A Ingraham
The neuroendocrine brain or hypothalamus has emerged as one of the most highly sexually dimorphic brain regions in mammals, and specifically in rodents. It is not surprising that hypothalamic nuclei play a pivotal role in controlling sex-dependent physiology. This brain region functions as a chief executive officer or master regulator of homeostatic physiological systems to integrate both external and internal signals. In this review, we describe sex differences in energy homeostasis that arise in one area of the hypothalamus, the ventrolateral subregion of the ventromedial hypothalamus (VMHvl) with a focus on how male and female neurons function in metabolic and behavioral aspects...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29224089/cellular-mechanisms-driving-sex-differences-in-adipose-tissue-biology-and-body-shape-in-humans-and-mouse-models
#3
Kalypso Karastergiou, Susan K Fried
Sex differences in adipose tissue distribution and the metabolic, endocrine, and immune functions of different anatomical fat depots have been described, but they are incompletely documented in the literature. It is becoming increasingly clear that adipose depots serve distinct functions in males and females and have specific physiological roles. However, the mechanisms that regulate the size and function of specific adipose tissues in men and women remain poorly understood. New insights from mouse models have advanced our understanding of depot differences in adipose growth and remodeling via the proliferation and differentiation of adipose progenitors that can expand adipocyte number in the tissue or simply replace dysfunctional older and larger adipocytes...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29223996/metabolic-myopathies-a-practical-approach
#4
REVIEW
James B Lilleker, Yann Shern Keh, Federico Roncaroli, Reena Sharma, Mark Roberts
Metabolic myopathies are a diverse group of rare genetic disorders and their associated muscle symptoms may be subtle. Patients may present with indolent myopathic features, exercise intolerance or recurrent rhabdomyolysis. Diagnostic delays are common and clinicians need a high index of suspicion to recognise and differentiate metabolic myopathies from other conditions that present in a similar fashion. Standard laboratory tests may be normal or non-specific, particularly between symptomatic episodes. Targeted enzyme activity measurement and next-generation genetic sequencing are increasingly used...
December 9, 2017: Practical Neurology
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/29223734/activation-of-the-epor-%C3%AE-common-receptor-complex-by-cibinetide-ameliorates-impaired-wound-healing-in-mice-with-genetic-diabetes
#6
Alessandra Bitto, Natasha Irrera, Gabriele Pizzino, Giovanni Pallio, Federica Mannino, Mario Vaccaro, Vincenzo Arcoraci, Federica Aliquò, Letteria Minutoli, Michele R Colonna, Maria Rosaria Galeano, Michael Brines, Chiara De Ponte, Massimo Collino, Francesco Squadrito, Domenica Altavilla
Diabetes is characterized by poor wound healing which currently lacks an efficacious treatment. The innate repair receptor (IRR) is a master regulator of tissue protection and repair which is expressed as a response injury or metabolic stress, including in diabetes. Activation of the IRR might provide benefit for diabetic wound healing. A specific IRR agonist cibinetide was administered in an incisional wound healing model performed mice with genetic diabetes (db+/db+) and compared to the normal wild-type. Animals were treated daily with cibinetide (30μg/kg/s...
December 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29223463/terfenadine-metabolism-of-human-cytochrome-p450-2j2-containing-genetic-variations-g312r-p351l-and-p115l
#7
Dabin Jeong, Hyoung-Goo Park, Young-Ran Lim, Yejin Lee, Vitchan Kim, Myung-A Cho, Donghak Kim
The human cytochrome P450 2J2 is involved in several metabolic reactions, including the oxidation of important therapeutics and epoxidation of endogenous arachidonic acid. At least ten genetic variations of P450 2J2 have been identified, but their effects on enzymatic activity have not been clearly characterized. Here, we evaluated the functional effects of three genetic variations of P450 2J2 (G312R, P351L, and P115L). Recombinant enzymes of wild-type and three variant P450 2J2 were heterologously expressed in Escherichia coli and purified...
November 11, 2017: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/29223392/parkinson-s-disease-associated-mutant-lrrk2-phosphorylates-rab7l1-and-modifies-trans-golgi-morphology
#8
Tetta Fujimoto, Tomoki Kuwahara, Tomoya Eguchi, Maria Sakurai, Tadayuki Komori, Takeshi Iwatsubo
Mutations in leucine-rich repeat kinase 2 (LRRK2) are the major genetic cause of autosomal-dominantly inherited Parkinson's disease. LRRK2 is implicated in the regulation of intracellular trafficking, neurite outgrowth and PD risk in connection with Rab7L1, a putative interactor of LRRK2. Recently, a subset of Rab GTPases have been reported as substrates of LRRK2. Here we examine the kinase activity of LRRK2 on Rab7L1 in situ in cells. Phos-tag analyses and metabolic labeling assays revealed that LRRK2 readily phosphorylates Golgi-localized wild-type Rab7L1 but not mutant forms that are distributed in the cytoplasm...
December 6, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29222763/designing-optimized-production-hosts-by-metabolic-modeling
#9
Christian Jungreuthmayer, Matthias P Gerstl, David A Peña Navarro, Michael Hanscho, David E Ruckerbauer, Jürgen Zanghellini
Many of the complex and expensive production steps in the chemical industry are readily available in living cells. In order to overcome the metabolic limits of these cells, the optimal genetic intervention strategies can be computed by the use of metabolic modeling. Elementary flux mode analysis (EFMA) is an ideal tool for this task, as it does not require defining a cellular objective function. We present two EFMA-based methods to optimize production hosts: (1) the standard approach that can only be used for small and medium scale metabolic networks and (2) the advanced dual system approach that can be utilized to directly compute intervention strategies in a genome-scale metabolic model...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222760/computational-prediction-of-synthetic-lethals-in-genome-scale-metabolic-models-using-fast-sl
#10
Karthik Raman, Aditya Pratapa, Omkar Mohite, Shankar Balachandran
In this chapter, we describe Fast-SL, an in silico approach to predict synthetic lethals in genome-scale metabolic models. Synthetic lethals are sets of genes or reactions where only the simultaneous removal of all genes or reactions in the set abolishes growth of an organism. In silico approaches to predict synthetic lethals are based on Flux Balance Analysis (FBA), a popular constraint-based analysis method based on linear programming. FBA has been shown to accurately predict the viability of various genome-scale metabolic models...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222756/metabolic-model-reconstruction-and-analysis-of-an-artificial-microbial-ecosystem
#11
Chao Ye, Nan Xu, Xiulai Chen, Liming Liu
Microbial communities are widespread in the environment, and to isolate and identify species or to determine relations among microorganisms, some 'omics methods like metagenomics, proteomics, and metabolomics have been used. When combined with various 'omics data, models known as artificial microbial ecosystems (AME) are powerful methods that can make functional predictions about microbial communities. Reconstruction of an AME model is the first step for model analysis. Many techniques have been applied to the construction of AME models, e...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222754/template-assisted-metabolic-reconstruction-and-assembly-of-hybrid-bacterial-models
#12
Tiziano Vignolini, Alessio Mengoni, Marco Fondi
Intraspecific genomic exchanges happen frequently between bacteria living in the same natural environment and can also be performed artificially in the laboratory for basic research or genetic/metabolic engineering purposes. In silico metabolic reconstruction and simulation of the metabolism of the hybrid strains that result from these processes can be used to predict the phenotypic outcome of such genomic rearrangements; this can be especially helpful as a designing tool in the purview of synthetic biology...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222753/integration-of-comparative-genomics-with-genome-scale-metabolic-modeling-to-investigate-strain-specific-phenotypical-differences
#13
Jonathan Monk, Emanuele Bosi
Genome-scale metabolic reconstructions are powerful resources that allow translation biological knowledge and genomic information to phenotypical predictions using a number of constraint-based methods. This approach has been applied in recent years to gain deep insights into the cellular phenotype role of the genes at a systems-level, driving the design of targeted experiments and paving the way for knowledge-based synthetic biology.The identification of genetic determinants underlying the variability at the phenotypical level is crucial to understand the evolutionary trajectories of a bacterial species...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29222463/the-genome-sequence-of-bipolaris-cookei-reveals-mechanisms-of-pathogenesis-underlying-target-leaf-spot-of-sorghum
#14
Alex Z Zaccaron, Burton H Bluhm
Bipolaris cookei (=Bipolaris sorghicola) causes target leaf spot, one of the most prevalent foliar diseases of sorghum. Little is known about the molecular basis of pathogenesis in B. cookei, in large part due to a paucity of resources for molecular genetics, such as a reference genome. Here, a draft genome sequence of B. cookei was obtained and analyzed. A hybrid assembly strategy utilizing Illumina and Pacific Biosciences sequencing technologies produced a draft nuclear genome of 36.1 Mb, organized into 321 scaffolds with L50 of 31 and N50 of 378 kb, from which 11,189 genes were predicted...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29221460/goldenpics-a-golden-gate-derived-modular-cloning-system-for-applied-synthetic-biology-in-the-yeast-pichia-pastoris
#15
Roland Prielhofer, Juan J Barrero, Stefanie Steuer, Thomas Gassler, Richard Zahrl, Kristin Baumann, Michael Sauer, Diethard Mattanovich, Brigitte Gasser, Hans Marx
BACKGROUND: State-of-the-art strain engineering techniques for the host Pichia pastoris (syn. Komagataella spp.) include overexpression of homologous and heterologous genes, and deletion of host genes. For metabolic and cell engineering purposes the simultaneous overexpression of more than one gene would often be required. Very recently, Golden Gate based libraries were adapted to optimize single expression cassettes for recombinant proteins in P. pastoris. However, an efficient toolbox allowing the overexpression of multiple genes at once was not available for P...
December 8, 2017: BMC Systems Biology
https://www.readbyqxmd.com/read/29221136/kif3a-and-il-4-are-disease-specific-biomarkers-for-psoriatic-arthritis-susceptibility
#16
Raffaella Cascella, Claudia Strafella, Michele Ragazzo, Laura Manzo, Gaetana Costanza, John Bowes, Ulrike Hüffmeier, Saverio Potenza, Federica Sangiuolo, André Reis, Anne Barton, Giuseppe Novelli, Augusto Orlandi, Emiliano Giardina
To date, the genes associated with Psoriatic Arthritis (PsA) are principally involved in inflammation, immune response and epidermal differentiation, without any information about the relationship between disease and bone metabolism genes. Our work was focused on 5q31 locus, which contains several genetic variants significantly associated with PsA. The study involved 1526 subjects (500 PsA, 426 PsV, 600 controls). The region was evaluated by selecting and genotyping the SNPs of interest by Real Time PCR and direct sequencing...
November 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29220881/the-ugt1a1-28-gene-variant-predicts-long-term-mortality-in-patients-undergoing-coronary-angiography
#17
Barbara Zulus, Gerda Grünbacher, Marcus E Kleber, Winfried März, Wilfried Renner
BACKGROUND: Uridine diphosphate glycosyltransferases 1A1 (UGT1A1) plays an essential role in detoxification and excretion of several endogenous and exogenous compounds. A functional polymorphism in the promoter of the UGT1A1 gene (TA repeat insertion, UGT1A1*28, rs3064744) has been associated with reduced UGT1A1 enzyme activity. The purpose of the present study was to investigate the role of UGT1A1 genotypes in mortality. METHODS: UGT1A1 genotypes as well as baseline plasma bilirubin levels were analyzed in participants of the Ludwigshafen Risk and Cardiovascular Health study (n=3316)...
December 7, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29220880/development-of-a-new-biochip-array-for-apoe4-classification-from-plasma-samples-using-immunoassay-based-methods
#18
Sigrun Badrnya, Tara Doherty, Ciaran Richardson, Robert I McConnell, John V Lamont, Michael Veitinger, Stephen P FitzGerald, Maria Zellner, Ellen Umlauf
BACKGROUND: Apolipoprotein E (APOE) is a key player in lipid transport and metabolism and exists in three common isoforms: APOE2, APOE3 and APOE4. The presence of the E4 allelic variant is recognized as a major genetic risk factor for dementia and other chronic (neuro)degenerative diseases. The availability of a validated assay for rapid and reliable APOE4 classification is therefore advantageous. METHODS: Biochip array technology (BAT) was successfully applied to identify directly the APOE4 status from plasma within 3 h, through simultaneous immunoassay-based detection of both specific APOE4 and total APOE levels...
December 7, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29220106/chemoprevention-by-resveratrol-and-pterostilbene-targeting-on-epigenetic-regulation
#19
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/29219151/familial-hypercholesterolaemia
#20
REVIEW
Joep C Defesche, Samuel S Gidding, Mariko Harada-Shiba, Robert A Hegele, Raul D Santos, Anthony S Wierzbicki
Familial hypercholesterolaemia is a common inherited disorder characterized by abnormally elevated serum levels of low-density lipoprotein (LDL) cholesterol from birth, which in time can lead to cardiovascular disease (CVD). Most cases are caused by autosomal dominant mutations in LDLR, which encodes the LDL receptor, although mutations in other genes coding for proteins involved in cholesterol metabolism or LDLR function and processing, such as APOB and PCSK9, can also be causative, although less frequently...
December 7, 2017: Nature Reviews. Disease Primers
keyword
keyword
25792
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"