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https://www.readbyqxmd.com/read/29332973/metabologenomics-of-phaeochromocytoma-and-paraganglioma-an-integrated-approach-for-personalised-biochemical-and-genetic-testing
#1
REVIEW
Graeme Eisenhofer, Barbara Klink, Susan Richter, Jacques Wm Lenders, Mercedes Robledo
The tremendous advances over the past two decades in both clinical genetics and biochemical testing of chromaffin cell tumours have led to new considerations about how these aspects of laboratory medicine can be integrated to improve diagnosis and management of affected patients. With germline mutations in 15 genes now identified to be responsible for over a third of all cases of phaeochromocytomas and paragangliomas, these tumours are recognised to have one of the richest hereditary backgrounds among all neoplasms...
April 2017: Clinical Biochemist. Reviews
https://www.readbyqxmd.com/read/29331920/engineering-yeast-for-utilization-of-alternative-feedstocks
#2
REVIEW
Allison Yaguchi, Michael Spagnuolo, Mark Blenner
Realizing the economic benefits of alternative substrates for commodity chemical bioproduction typically requires significant metabolic engineering of common model organisms, such as Saccharomyces cerevisiae. A growing toolkit is enabling engineering of non-conventional yeast that have robust native metabolism for xylose, acetate, aromatics, and waste lipids. Scheffersomyces stipitis was engineered to produce itaconic acid from xylose. Yarrowia lipolytica produced lipids from dilute acetate at over 100g/L. Cutaneotrichosporon oleaginosus was engineered to produce omega-3 fatty acids and recently was shown to accumulate nearly 70% lipids when grown on aromatics as a carbon source...
January 10, 2018: Current Opinion in Biotechnology
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#3
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29330185/the-mgte-homolog-fici-acts-as-a-secondary-ferrous-iron-importer-in-shewanella-oneidensis-strain-mr-1
#4
Brittany D Bennett, Kaitlyn E Redford, Jeffrey A Gralnick
The transport of metals into and out of cells is necessary for the maintenance of appropriate intracellular concentrations. Metals are needed for incorporation into metalloproteins but become toxic at higher concentrations. Many metal transport proteins have been discovered in bacteria, including the Mg2+ transporter-E (MgtE) family of passive Mg2+/Co2+ cation-selective channels. Low sequence identity exists between members of the MgtE family, indicating that substrate specificity may differ among MgtE transporters...
January 12, 2018: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29328434/chemical-conversion-of-human-lung-fibroblasts-into-neuronal-cells
#5
Xiao-Yu Wan, Li-Yun Xu, Bing Li, Qiu-Hong Sun, Qiu-Liang Ji, Dong-Dong Huang, Lan Zhao, Yong-Tao Xiao
It has been previously reported that human embryonic fibroblasts and mouse embryonic fibroblasts can be converted into neuronal cells using chemical agents, along with forced expression specific transcriptional factors. However, the materials required for reprogramming in these approaches presents major technical difficulties and safety concerns. The current study investigated whether a cocktail of small molecules can convert human lung fibroblast cells into neurons. The small molecules valproic acid, CHIR99021, DMH1, Repsox, forskolin, Y‑27632 and SP600125 (VCHRFYS) were used to induce MRC‑5 cells into neuronal cells in vitro...
January 10, 2018: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29321644/cox-2-induces-oncogenic-micro-rna-mir655-in-human-breast-cancer
#6
Mousumi Majumder, Leanna Dunn, Ling Liu, Asma Hasan, Krista Vincent, Muriel Brackstone, David Hess, Peeyush K Lala
We show that Cyclooxygenase-2 over-expression induces an oncogenic microRNA miR655 in human breast cancer cells by activation of EP4. MiR655 expression positively correlated with COX-2 in genetically disparate breast cancer cell lines and increased in all cell lines when grown as spheroids, implicating its link with stem-like cells (SLCs). Ectopic miR655 over-expression in MCF7 and SKBR3 cells resulted in increased proliferation, migration, invasion, spheroid formation and Epithelial to Masenchymal transition (EMT)...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321381/association-between-genetic-polymorphism-and-levothyroxine-bioavailability-in-hypothyroid-patients
#7
Merve Arici, Ezgi Oztas, Fatih Yanar, Nihat Aksakal, Beyza Ozcinar, Gul Ozhan
Thyroid hormones play a vital role in the human body for growth and differentiation, regulation of energy metabolism, and physiological function. Hypothyroidism is a common endocrine disorder, which generally results from diminished normal circulating concentrations of serum thyroxine (fT4) and triiodothyronine (fT3). The primary choice in hypothyroidism treatment is oral administration of levothyroxine (L-T4), a synthetic T4 hormone, as approximately 100-125 μg/day. Generally, dose adjustment is made by trial and error approach...
January 11, 2018: Endocrine Journal
https://www.readbyqxmd.com/read/29319893/possible-role-of-cyp2b6-genetic-polymorphisms-in-ifosfamide-induced-encephalopathy-report-of-three-cases
#8
Thomas Duflot, Aude Marie-Cardine, Céline Verstuyft, Bruno Filhon, Tony Pereira, Nathalie Massy Guillemant, Robinson Joannidès, Jérémy Bellien, Fabien Lamoureux
Ifosfamide (IFA) is a potent alkylating antitumoral agent but its use is limited by neurological side effects. IFA is a racemic mixture of two enantiomeric forms, R-IFA and S-IFA with a stereoselective metabolism by CYP3A4 and CYP2B6, leading either to bioactive or to toxic pathways. In 3 consecutive cases of pediatric patients who exhibited ifosfamide-induced encephalopathy (IIE), genotyping of clinically relevant single nucleotide polymorphisms associated with decreased CYP3A4 and CYP2B6 activities was performed...
January 10, 2018: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/29317067/nigral-depigmentation-reflects-monoamine-exhaustion-as-initial-step-to-parkinson-s-disease
#9
Thomas Müller, Willi Kohlhepp
This hypothesis discusses exposure and response to various stressors as cause for chronic neurodegeneration. Predisposing genetic and environmental factors in conjunction with exposure to exogenous and endogenous toxins cause stress, which consumes dopamine and related biogenic amines. To compensate monoamine exhaustion, conversion of endogenous levodopa to dopamine by tyrosine hydroxylase is up regulated. Concomitantly, tyrosine mediated levodopa degradation to dopaquinone is reduced. Dopaquinone is the essential precursor of neuromelanin...
January 2018: Medical Hypotheses
https://www.readbyqxmd.com/read/29315517/role-of-respiratory-terminal-oxidases-in-the-extracellular-electron-transfer-ability-of-cyanobacteria
#10
Narendran Sekar, Jian Wang, Yan Zhou, Yi Fang, Yajun Yan, Ramaraja P Ramasamy
Cyanobacteria are used as anode catalysts in photo-bioelectrochemical cells to generate electricity in a sustainable, economic and environmental friendly manner using only water and sunlight. Though cyanobacteria (CB) possess unique advantage for solar energy conversion by virtue of its robust photosynthesis, they cannot efficiently perform extracellular electron transfer (EET). The reasons being, unlike dissimilatory metal reducing bacteria (that are usually exploited in microbial fuel cells to generate electricity), (1) CB do not possess any special features on their outer membrane to carry out EET and (2) the electrons generated in photosynthetic electron transport chain are channeled into competing respiratory pathways rather than to the anode...
January 8, 2018: Biotechnology and Bioengineering
https://www.readbyqxmd.com/read/29310925/th17-lineage-cells-in-pulmonary-sarcoidosis-and-l%C3%A3-fgren-s-syndrome-friend-or-foe
#11
REVIEW
Jelle R Miedema, Ylva Kaiser, Caroline E Broos, Marlies S Wijsenbeek, Johan Grunewald, Mirjam Kool
Sarcoidosis, a multisystem granulomatous disorder, has historically been classified as Th1-driven disease. However, increasing data demonstrate a key role of Th17-cell plasticity in granuloma formation and maintenance. In Löfgren's syndrome (LS), an acute and distinct phenotype of sarcoidosis with a favorable outcome, differences in Th17-lineage cell subsets, cytokine expression and T-cell suppressive mechanisms may account for differences in clinical presentation as well as prognosis compared to non-LS sarcoidosis...
January 5, 2018: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29305919/pathological-role-of-lipid-interaction-with-%C3%AE-synuclein-in-parkinson-s-disease
#12
REVIEW
Mari Suzuki, Kazunori Sango, Keiji Wada, Yoshitaka Nagai
Alpha-synuclein (αSyn) plays a central role in the pathogenesis of Parkinson's disease (PD) and dementia with Lewy bodies (DLB). In sporadic PD and DLB, normally harmless αSyn proteins without any mutations might gain toxic functions by unknown mechanisms. Thus, it is important to elucidate the factors promoting the toxic conversion of αSyn, towards understanding the pathogenesis of and developing disease-modifying therapies for PD and DLB. Accumulating biophysical and biochemical studies have demonstrated that αSyn interacts with lipid membrane, and the interaction influences αSyn oligomerization and aggregation...
January 3, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/29298891/cleavage-of-the-c-terminal-fragment-of-reovirus-%C3%AE-1-is-required-for-optimal-infectivity
#13
Anthony J Snyder, Pranav Danthi
The mammalian orthoreovirus (reovirus) outer capsid, which is composed of 200 μ1/σ3 heterohexamers and a maximum of 12 σ1 trimers, contains all of the proteins that are necessary for attaching to and entering host cells. Following attachment, reovirus is internalized by receptor-mediated endocytosis and acid-dependent cathepsin proteases degrade the σ3 protein. This process generates a metastable intermediate, called infectious subviral particle (ISVP), in which the μ1 membrane penetration protein is exposed...
January 3, 2018: Journal of Virology
https://www.readbyqxmd.com/read/29297312/generation-of-megabase-scale-deletions-inversions-and-duplications-involving-the-contactin-6-gene-in-mice-by-crispr-cas9-technology
#14
Alexei N Korablev, Irina A Serova, Oleg L Serov
BACKGROUND: Copy Number Variation (CNV) of the human CNTN6 gene (encoding the contactin-6 protein), caused by deletions or duplications, is responsible for severe neurodevelopmental impairments, often in combination with facial dysmorphias. Conversely, deleterious point mutations of this gene do not show any clinical phenotypes. The aim of this study is to generate mice carrying large deletions, duplications and inversions involving the Cntn6 gene as a new experimental model to study CNV of the human CNTN6 locus...
December 28, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29295820/diet1-bile-acid-diarrhea-and-fgf15-19-mouse-model-and-human-genetic-variants
#15
Jessica M Lee, Jessica R Ong, Laurent Vergnes, Thomas Q de Aguiar Vallim, Jonathan Nolan, Rita M Cantor, Julian R F Walters, Karen Reue
Diet1 modulates intestinal production of the hormone fibroblast growth factor 15 (FGF15), which signals in liver to regulate bile acid synthesis. C57BL/6ByJ mice with a spontaneous Diet1 null mutation are resistant to hypercholesterolemia compared to wild-type C57BL/6J mice through enhanced cholesterol conversion to bile acids. To further characterize the role of Diet1 in metabolism, we generated Diet1-/- mice on the C57BL6/J genetic background. C57BL/6J Diet1-/- mice had elevated bile acid levels, reduced Fgf15 expression, and increased gastrointestinal motility and intestinal luminal water content, which are symptoms of bile acid diarrhea (BAD) in humans...
January 2, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29288440/functional-requirement-of-a-wild-type-allele-for-mutant-idh1-to-suppress-anchorage-independent-growth-through-redox-homeostasis
#16
Patricia D B Tiburcio, Bing Xiao, Shauna Berg, Sydney Asper, Sean Lyne, Yan Zhang, Xingen Zhu, Hai Yan, L Eric Huang
Mutations of isocitrate dehydrogenase 1 (IDH1) gene are most common in glioma, arguably preceding all known genetic alterations during tumor development. IDH1 mutations nearly invariably target the enzymatic active site Arg132, giving rise to the predominant IDH1R132H. Cells harboring IDH1 R132H -heterozygous mutation produce 2-hydroxyglutarate (2-HG), which results in histone and DNA hypermethylation. Although exogenous IDH1 R132H transduction has been shown to promote anchorage-independent growth, the biological role of IDH1R132H in glioma remains debatable...
December 29, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29283615/-take-your-time-then-follow-your-heart-previvors-advice-for-communicating-about-family-planning-after-testing-positive-for-a-brca-genetic-variant
#17
Emily A Rauscher, Marleah Dean
INTRODUCTION: The purpose of this study was to identify previvors' strategies for communicating about family planning after testing positive for a variant of the "breast cancer gene" (BRCA). METHOD: Semistructured interviews were conducted with 20 women currently in committed romantic relationships, but who had not yet completed family planning upon finding out about their BRCA mutation status. RESULTS: Data analysis produced three categories of participant advice given to newly diagnosed previvors...
December 2017: Families, Systems & Health: the Journal of Collaborative Family Healthcare
https://www.readbyqxmd.com/read/29282875/evaluating-methods-to-visualize-patterns-of-genetic-differentiation-on-a-landscape
#18
Geoffrey L House, Matthew W Hahn
With advances in sequencing technology, research in the field of landscape genetics can now be conducted at unprecedented spatial and genomic scales. This has been especially evident when using sequence data to visualize patterns of genetic differentiation across a landscape due to demographic history, including changes in migration. Two recent model-based visualization methods that can highlight unusual patterns of genetic differentiation across a landscape, SpaceMix and EEMS, are increasingly used. While SpaceMix's model can infer long-distance migration, EEMS' model is more sensitive to short-distance changes in genetic differentiation, and it is unclear how these differences may affect their results in various situations...
December 28, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/29282290/phosphoinositide-conversion-in-endocytosis-and-the-endolysosomal-system
#19
Alexander Wallroth, Volker Haucke
Phosphoinositides (PIs)1 are phospholipids that perform crucial cell functions ranging from cell migration and signaling to membrane trafficking, by serving as signposts of compartmental membrane identity. Although phosphatidylinositol 4,5-bisphosphate, 3-phosphate, and 3,5-bisphosphate are commonly considered as hallmarks of the plasma membrane, endosomes, and lysosomes, these compartments contain other functionally important PIs. Here, we review the roles of PIs in different compartments of the endolysosomal system in mammalian cells and discuss the mechanisms that spatiotemporally control PI conversion in endocytosis and endolysosomal membrane dynamics during endosome maturation and sorting...
December 27, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29279957/production-of-5-ketofructose-from-fructose-or-sucrose-using-genetically-modified-gluconobacter-oxydans-strains
#20
Anna Siemen, Konrad Kosciow, Paul Schweiger, Uwe Deppenmeier
The growing consumer demand for low-calorie, sugar-free foodstuff motivated us to search for alternative non-nutritive sweeteners. A promising sweet-tasting compound is 5-keto-D-fructose (5-KF), which is formed by membrane-bound fructose dehydrogenases (Fdh) in some Gluconobacter strains. The plasmid-based expression of the fdh genes in Gluconobacter (G.) oxydans resulted in a much higher Fdh activity in comparison to the native host G. japonicus. Growth experiments with G. oxydans fdh in fructose-containing media indicated that 5-KF was rapidly formed with a conversion efficiency of 90%...
December 26, 2017: Applied Microbiology and Biotechnology
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