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https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#1
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
November 30, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27898054/refined-experimental-annotation-reveals-conserved-corrinoid-autotrophy-in-chloroform-respiring-dehalobacter-isolates
#2
Po-Hsiang Wang, Shuiquan Tang, Kayla Nemr, Robert Flick, Jun Yan, Radhakrishnan Mahadevan, Alexander F Yakunin, Frank E Löffler, Elizabeth A Edwards
Two novel chlorinated alkane-respiring Dehalobacter restrictus strains CF and DCA were isolated from the same enrichment culture, ACT-3, and characterized. The closed genomes of these highly similar sister strains were previously assembled from metagenomic sequence data and annotated. The isolation of the strains enabled experimental verification of predicted annotations, particularly focusing on irregularities or predicted gaps in central metabolic pathways and cofactor biosynthesis. Similar to D. restrictus strain PER-K23, strains CF and DCA require arginine, histidine and threonine for growth, although the corresponding biosynthesis pathways are predicted to be functional...
November 29, 2016: ISME Journal
https://www.readbyqxmd.com/read/27893837/cell-type-specific-modulation-of-cobalamin-uptake-by-bovine-serum
#3
Hua Zhao, Kalani Ruberu, Hongyun Li, Brett Garner
Tracking cellular 57Co-labelled cobalamin (57Co-Cbl) uptake is a well-established method for studying Cbl homeostasis. Previous studies established that bovine serum is not generally permissive for cellular Cbl uptake when used as a supplement in cell culture medium, whereas supplementation with human serum promotes cellular Cbl uptake. The underlying reasons for these differences are not fully defined. In the current study we address this question. We extend earlier observations by showing that fetal calf serum inhibits cellular 57Co-Cbl uptake by HT1080 cells (a fibrosarcoma-derived fibroblast cell line)...
2016: PloS One
https://www.readbyqxmd.com/read/27884837/characteristic-peripheral-blood-smear-findings-in-disorders-of-cobalamin-metabolism
#4
Hojun Li, Colin Sieff
No abstract text is available yet for this article.
November 24, 2016: Blood
https://www.readbyqxmd.com/read/27879450/human-placental-arterial-distensibility-birth-weight-and-body-size-are-positively-related-to-fetal-homocysteine-concentration
#5
Stephen W D'Souza, Nita Solanky, Jane Guarino, Stuart Moat, Colin P Sibley, Michael Taggart, Jocelyn D Glazier
Methionine demethylation during metabolism generates homocysteine (Hcy) and its remethylation requires folate and cobalamin. Elevated Hcy concentrations are associated with vascular-related complications of pregnancy, including increased vascular stiffness, predictive of clinical vascular disease. Maternal and fetal total Hcy (tHcy) concentrations are positively related, yet the influence of Hcy on fetoplacental vascular function in normal pregnancy has not been examined. We hypothesized that Hcy alters fetoplacental vascular characteristics with influences on fetal growth outcomes...
November 21, 2016: Reproductive Sciences
https://www.readbyqxmd.com/read/27876471/cobalamin-and-folate-protect-mitochondrial-and-contractile-functions-in-a-murine-model-of-cardiac-pressure-overload
#6
Jérôme Piquereau, Maryline Moulin, Giada Zurlo, Philippe Mateo, Mélanie Gressette, Jean-Louis Paul, Christophe Lemaire, Renée Ventura-Clapier, Vladimir Veksler, Anne Garnier
PGC-1α, a key regulator of energy metabolism, seems to be a relevant therapeutic target to rectify the energy deficit observed in heart failure (HF). Since our previous work has shown positive effects of cobalamin (Cb) on PGC-1α cascade, we investigate the protective role of Cb in pressure overload-induced myocardial dysfunction. Mice were fed with normal diet (ND) or with Cb and folate supplemented diet (SD) 3weeks before and 4weeks after transverse aortic constriction (TAC). At the end, left ventricle hypertrophy and drop of ejection fraction were significantly lower in SD mice than in ND mice...
November 19, 2016: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/27874260/phototriggered-secretion-of-membrane-compartmentalized-bioactive-agents
#7
Robert M Hughes, Christina M Marvin, Zachary L Rodgers, Song Ding, Nathan P Oien, Weston J Smith, David S Lawrence
A strategy for the light-activated release of bioactive compounds (BODIPY, colchicine, paclitaxel, and methotrexate) from membrane-enclosed depots is described. We have found that membrane-permeable bioagents can be rendered membrane impermeable by covalent attachment to cobalamin (Cbl) through a photocleavable linker. These Cbl-bioagent conjugates are imprisoned within lipid-enclosed compartments in the dark, as exemplified by their retention in the interior of erythrocytes. Subsequent illumination drives the secretion of the bioactive species from red blood cells...
November 22, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27864850/hyperhomocysteinemia-in-greyhounds-and-its-association-with-hypofolatemia-and-other-clinicopathologic-variables
#8
R M Heilmann, N Grützner, M C Iazbik, R Lopes, C S Bridges, J S Suchodolski, C G Couto, J M Steiner
BACKGROUND: Folate and cobalamin are essential cofactors for homocysteine (HCY) metabolism. Hyperhomocysteinemia, a multifactorial condition, may reflect B vitamin deficiency and is associated with increased risk of cardiovascular disease, thrombosis, and neurodegenerative and chronic gastrointestinal diseases in humans. Hyperhomocysteinemia has been reported in Greyhounds with suspected chronic enteropathy. OBJECTIVES: To evaluate the frequencies of and the association between hypofolatemia and hyperhomocysteinemia in Greyhounds...
November 19, 2016: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/27858373/vitamin-b12-administration-by-subcutaneous-catheter-device-in-a-cobalamin-a-cbla-patient
#9
E Maines, G Morandi, G Gugelmo, F Ion-Popa, N Campostrini, A Pasini, M Vincenzi, F Teofoli, M Camilot, A Bordugo
Cobalamin A deficiency (cblA) is an inherited disorder of intracellular cobalamin metabolism, caused by impaired 5'-deoxy-adenosylcobalamin (AdoCbl) synthesis. Hydroxocobalamin (OHCbl) is the cornerstone of cblA treatment because vitamin B12 may completely restore AdoCbl deficiency. Parenteral administration, intravenous, subcutaneous or intramuscular, is generally required to achieve effect. Daily injections represent a problem for the parents and the caregivers, and this may lead to poor compliance and scarce adherence to the long-term treatment...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27845054/simultaneous-determination-of-plasma-total-homocysteine-and-methionine-by-liquid-chromatography-tandem-mass-spectrometry
#10
Yi Jiang, Brandon Mistretta, Sarah Elsea, Qin Sun
The sulfur-containing amino acid homocysteine is a cardiac risk factor and a biomarker for several inborn errors of metabolism in methionine synthesis. A simple LC-MS/MS method was developed and validated for determination of homocysteine and methionine in human plasma. Rapid separation was achieved using a reverse phase liquid chromatography. Mass spectrometry identification was performed in positive electrospray ionization mode for homocysteine and methionine. Accuracy, precision, linearity, recovery and sample stability were evaluated in the method validation...
November 12, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27815192/switching-metabolic-status-by-activating-a-silent-glycerol-catabolism-pathway-for-acetoin-production-from-glycerol
#11
Yu Wang, Fei Tao, Bo Xin, Hongyu Liu, Yanyan Gao, Ning-Yi Zhou, Ping Xu
The physiological roles of silent genes are still unsolved puzzles and their application potentials are unexplored. Herein, a silent glycerol catabolism pathway encoded by glp system was activated in a Klebsiella pneumoniae mutant, of which the acetoin degradation pathway was blocked. Surprisingly, the activation produced significant effects on cellular metabolism and over 90% of the carbon flux was redirected to acetoin biosynthesis, which was formerly a minor product in this mutant. Transcription analyses suggest that the genes involved in acetoin, 1,3-propanediol and adenosyl-cobalamin biosynthesis were differentially regulated upon the glp system activation, demonstrating the cross-talk between silent and active pathways...
November 1, 2016: Metabolic Engineering
https://www.readbyqxmd.com/read/27797190/toward-the-design-of-photoresponsive-conditional-antivitamins-b12-a-transient-absorption-study-of-an-arylcobalamin-and-an-alkynylcobalamin
#12
Nicholas A Miller, Theodore E Wiley, Kenneth G Spears, Markus Ruetz, Christoph Kieninger, Bernhard Kräutler, Roseanne J Sension
Cobalamins are of widespread importance in biology. Both of the cofactors essential for human metabolism, the organocobalamins coenzyme B12 and methylcobalamin, are highly photolabile, as are other alkylcobalamins. The alkynylcobalamin phenylethynylcobalamin (PhEtyCbl) and the arylcobalamin 4-ethylphenylcobalamin (EtPhCbl) with "atypical" Co-C-bonds to unsaturated carbons, were recently designed as metabolically inert cobalamins, classified as "antivitamins B12". The further development of an ideal light-activated or "conditional" antivitamin B12 would require it to be readily converted by light into an active B12 vitamin form...
October 24, 2016: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/27771510/methionine-synthase-and-methionine-synthase-reductase-interact-with-mmachc-and-with-mmadhc
#13
Christine Bassila, Rose Ghemrawi, Justine Flayac, D Sean Froese, Matthias R Baumgartner, Jean-Louis Guéant, David Coelho
An increasing number of studies indicate that each step of the intracellular processing of vitamin B12 or cobalamin (Cbl) involves protein-protein interactions. We have previously described a novel interaction between methionine synthase (MS) and MMACHC and its effect on the regulation of MMACHC activity. Our goal is to further characterize the interactions of MS with other potential partners in a so-called MS interactome. We dissected the interactions and their alterations by co-immunoprecipitation and DuoLink proximity ligation assays in fibroblasts with cblG, cblE, and cblC genetic defects affecting respectively the expression of MS, methionine synthase reductase (MSR) and MMACHC and in HepG2 cells transfected with corresponding siRNAs...
October 19, 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27752783/techno-functional-differentiation-of-two-vitamin-b12-producing-lactobacillus-plantarum-strains-an-elucidation-for-diverse-future-use
#14
Bharat Bhushan, S K Tomar, Arun Chauhan
An appropriate selection of Lactobacillus strain (probiotic/starter/functional) on the basis of its techno-functional characteristics is required before developing a novel fermented functional food. We compared vitamin B12 (B12, cobalamin) producing Lactobacillus plantarum isolates, BHM10 and BCF20, for functional (vitamin over-production, genomic insight to B12 structural genes, and probiotic attributes) and technological [milks (skim and soy) fermentation and B12 bio-fortification] characteristics. Addition of B12 precursors (5-amonolevulinate and dimethylbenzimidazole) to cobalamin-free fermentation medium increased vitamin production in BHM10, BCF20, and DSM20016 (a positive standard) by 3...
October 17, 2016: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/27752503/investigation-of-phenolic-flavonoid-and-vitamin-contents-in-different-parts-of-korean-ginseng-panax-ginseng-c-a-meyer
#15
Ji-Sang Kim
This study investigated the phenolic, flavonoid, and vitamin constituents in the main root, root hair, and leaf of ginseng. The total individual phenolic and flavonoid contents were the highest in the leaf, followed by the main root and root hair. Ferulic acid and m-coumaric acid were found to be the major phenolics in the main root and root hair, while p-coumaric acid and m-coumaric acid were the major phenolics in the leaf. Catechin was the major flavonoid component in the main root and root hair, while catechin and kaempferol were the major flavonoid components in the leaf...
September 2016: Preventive Nutrition and Food Science
https://www.readbyqxmd.com/read/27737643/cobalamin-production-by-lactobacillus-coryniformis-biochemical-identification-of-the-synthetized-corrinoid-and-genomic-analysis-of-the-biosynthetic-cluster
#16
Andrea Carolina Torres, Verónica Vannini, Julieta Bonacina, Graciela Font, Lucila Saavedra, María Pía Taranto
BACKGROUND: Despite the fact that most vitamins are present in a variety of foods, malnutrition, unbalanced diets or insufficient intake of foods are still the cause of vitamin deficiencies in humans in some countries. Vitamin B12 (Cobalamin) is a complex compound that is only naturally produced by bacteria and archea. It has been reported that certain strains belonging to lactic acid bacteria group are capable of synthesized water-soluble vitamins such as those included in the B-group, as vitamin B12...
October 13, 2016: BMC Microbiology
https://www.readbyqxmd.com/read/27736023/b12-deficiency-is-common-in-infants-and-is-accompanied-by-serious-neurological-symptoms
#17
T Irevall, I Axelsson, E Naumburg
AIM: Adverse neurological symptoms have been linked to vitamin B12 deficiency in infants. This explorative study described the clinical presentation associated with vitamin B12 deficiency in this age group. METHODS: The study comprised infants who were born between 2004 and 2012 and were tested for vitamin B12 levels after they were admitted to a hospital with neurological symptoms at less than one year of age. Vitamin B12 deficiency was defined as low cobalamin in serum and/or increased homocysteine and/or increased methylmalonate...
October 13, 2016: Acta Paediatrica
https://www.readbyqxmd.com/read/27730072/study-of-vitamin-b12-deficiency-and-peripheral-neuropathy-in-metformin-treated-early-type-2-diabetes-mellitus
#18
Rudra Prasad Roy, Kaushik Ghosh, Manas Ghosh, Amitava Acharyya, Ambarish Bhattacharya, Mrinal Pal, Sisir Chakraborty, Nilanjan Sengupta
BACKGROUND: Long-term therapy with metformin was shown to decrease the Vitamin B12 level and manifested as peripheral neuropathy. AIM: The aim of this study is to define the prevalence of Vitamin B12 deficiency in early Type 2 diabetic patients (duration ≤5 years or drug treatment ≤3 years) and the relationship among metformin exposure and levels of cobalamin (Cbl), folic acid, and homocysteine (Hcy) with severity of peripheral neuropathy. METHODOLOGY: This is a cross-sectional study involving randomly selected ninety patients (male 56, female 34) between age groups of 35 and 70 years, comparing those who had received >6 months of metformin (Group A) (n = 35) with those without metformin (Group B) (n = 35) and patients taking metformin with other oral hypoglycemic agent (Group C) (n = 20)...
September 2016: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27726382/inorganic-cyanide-as-protecting-group-in-the-stereospecific-reconstitution-of-vitamin-b12-from-an-artificial-green-secocorrinoid
#19
Lucas Prieto, Markus Neuburger, Bernhard Spingler, Felix Zelder
The synthesis of vitamin B12 in four steps from an artificial green secocorrinoid is presented. The stereospecific reconstitution of the B-ring of the cobalamin involves a quantitative and rapid ligand-centered radical ring closure reaction leading first to a new B12 derivative with antivitamin activity that is subsequently converted to the natural product. Chemoselectivity in the one-electron reduction of the macrocycle was achieved by introducing inorganic cyanide as an axially coordinating protecting group of the otherwise reduction-sensitive Co(III)-ion...
October 11, 2016: Organic Letters
https://www.readbyqxmd.com/read/27716295/association-of-kctd10-mvk-and-mmab-polymorphisms-with-dyslipidemia-and-coronary-heart-disease-in-han-chinese-population
#20
Jie Sun, Yun Qian, Yue Jiang, Jiaping Chen, Juncheng Dai, Guangfu Jin, Jianming Wang, Zhibin Hu, Sijun Liu, Chong Shen, Hongbing Shen
BACKGROUND: Several genome-wide association studies have discovered novel loci at chromosome 12q24, which includes mevalonate kinase (MVK), methylmalonic aciduria (cobalamin deficiency) cbIB type (MMAB), and potassium channel tetramerization domain-containing 10 (KCTD10), all of which influence HDL-cholesterol concentrations. However, there are few reports on the associations between these polymorphisms and HDL-C concentrations in Chinese population. This study aimed to evaluate the associations between functional polymorphisms in three genes (MVK, MMAB and KCTD10) and HDL-C concentrations, as well as coronary heart disease (CHD) susceptibility in Chinese individuals...
October 4, 2016: Lipids in Health and Disease
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