Jing Liu, Yan Jiang, Deshui Liu, Hao Zhang, Tuantuan Chen, Guangping Zhang, Hongbin Liu, Shu Du, Zaihong Lin, Yan Jin, Xiaohua Li
BACKGROUND: This study aimed to investigate the effect of cobalt transporter II gene (rs1801198, rs2301957, rs9606756) polymorphism on serum homocysteine level and its correlation with young and middle recurrent cerebral infarction. METHODS: A total of 348 young and middleaged patients with cerebral infarction admitted to The Third Affiliated Hospital of Qiqihar Medical University from January 2017 to March 2018 were enrolled. The patients were divided into recurrent and non recurrent groups according to followup...
March 20, 2020: Minerva Medica
Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
BACKGROUND: Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manifests with heterogeneous multiorgan involvement mainly affecting hematological, hepatic and neurological axes. This disorder is divided into three types, based on the absence (type I) or presence and severity (types II and III) of involvement of the central nervous system...
January 13, 2020: BMC Medical Genetics
Liberty N Gendron, Dillon C Zites, Ethan P M LaRochelle, Jason R Gunn, Brian W Pogue, Thomas A Shell, Jennifer R Shell
BACKGROUND: X-Ray induced phototherapy is highly sought after as it provides a deep tissue, synergistic method of treating cancers via standard-of-care radiotherapy. When this is combined with releasable chemotherapy agents, it can provide high target selectivity, with reduced off-target organ effects that limit current systemic therapies. We have recently developed a unique light-activated drug delivery system whereby the drug is conjugated to an alkylcobalamin scaffold. Alkylcobalamins are actively transported into cells by transcobalamin receptors (TCblR), which are overexpressed in a variety of cancer types...
December 31, 2019: Photodiagnosis and Photodynamic Therapy
C C Zouboulis, A Nogueira da Costa, E Makrantonaki, X X Hou, D Almansouri, J T Dudley, H Edwards, B Readhead, O Balthasar, G B E Jemec, N G Bonitsis, G Nikolakis, D Trebing, K C Zouboulis, A M Hossini
BACKGROUND: The large unmet need of hidradenitis suppurativa/acne inversa (HS) therapy requires the elucidation of disease-driving mechanisms and tissue targeting. OBJECTIVE: Robust characterization of the underlying HS mechanisms and detection of the involved skin compartments. METHODS: Hidradenitis suppurativa/acne inversa molecular taxonomy and key signalling pathways were studied by whole transcriptome profiling. Dysregulated genes were detected by comparing lesional and non-lesional skin obtained from female HS patients and matched healthy controls using the Agilent array platform...
December 14, 2019: Journal of the European Academy of Dermatology and Venereology: JEADV
Taj Lo-Bisgaard, Ulrick Espelund, Jan Frystyk, Torben Riis Rasmussen, Ebba Nexo, Johan Frederik Håkonsen Arendt
High cobalamin levels have previously been associated with short-term cancer risk, including lung cancer. We explored whether levels of cobalamin and/or its binding proteins are useful as a diagnostic tool in patients suspected of non-small cell lung cancer. We included 889 patients referred for fast-track diagnosis of lung cancer to Aarhus University Hospital, Denmark. We analyzed plasma concentrations of cobalamin, transcobalamin, holotranscobalamin and haptocorrin. Information on lung cancer diagnosis was retrieved from a national database...
November 18, 2019: Scandinavian Journal of Clinical and Laboratory Investigation
Sanjeev Khera, Suman Kumar Pramanik, Saroj Kumar Patnaik
Transcobalamin (TC) deficiency is a rare autosomal recessive inborn error of cobalamin transport which clinically manifests in early infancy. We describe a child with TC deficiency who presented with classical clinical and lab stigmata of inborn error of vitamin B12 metabolism except normal serum B12 levels. He was started on empirical parenteral cobalamin supplements at 2 months of age; however, the definitive diagnosis could only be established at 6 years of age when a genetic evaluation revealed homozygous nonsense variation in exon 8 of the TCN2 gene (chr22:g...
October 30, 2019: BMJ Case Reports
Francesco Carinci, Annalisa Palmieri, Luca Scapoli, Francesca Cura, Fabio Abenavoli, Aldo Bruno Giannì, Antonio Russillo, Raffaella Docimo, Marcella Martinelli
Orofacial clefts are common congenital defects whose prevalence differs between geographical regions and ethnic groups. The inheritance is complex, involving the contribution of both genetic and environmental factors. The involvement of genes belonging to the folate pathway is still matter of debate, with strong evidences of association and conflicting results. After demonstrating the contribution, for a sample from the Italian population, of common mutations mapping on three genes of the folate pathway, our group tried to unravel their contribution in independent sample studies with different ethnicity...
January 2019: International Journal of Immunopathology and Pharmacology
Sandra G Heil, Petra Bodenburg, Peter Findeisen, Silke Luebcke, Yuli Sun, Yolanda B de Rijke
No abstract text is available yet for this article.
July 16, 2019: Annals of Clinical Biochemistry
Raquel Aparicio-Ugarriza, Magdalena Cuenca-García, Marcela Gonzalez-Gross, Cristina Julián, Silvia Bel-Serrat, Luis A Moreno, Christina Breidenassel, Mathilde Kersting, Aline B Arouca, Nathalie Michels, Theodora Mouratidou, Yannis Manios, Jean Dallongeville, Frédéric Gottrand, Kurt Widhalm, Anthony Kafatos, Denes Molnár, Stefaan De Henauw, Marc J Gunter, Inge Huybrechts
OBJECTIVE: To investigate whether adherence to the adapted Mediterranean Diet Score for Adolescents (MDS_A) and the adapted Mediterranean Diet Quality Index for Adolescents (KIDMED_A) is associated with better food/nutrient intakes and nutritional biomarkers. DESIGN: The Healthy Lifestyle in Europe by Nutrition in Adolescence (HELENA) study is a cross-sectional study aiming to obtain comparable data on a variety of nutritional and health-related parameters in European adolescents aged 12·5-17·5 years...
September 2019: Public Health Nutrition
Han Sung Park, Jung Oh Kim, Hui Jeong An, Chang Soo Ryu, Eun Ju Ko, Young Ran Kim, Eun Hee Ahn, Woo Sik Lee, Ji Hyang Kim, Nam Keun Kim
PURPOSE: Vitamin B12 (cobalamin, Cbl) plays a role in the recycling of folate, which is important in pregnancy. Transcobalamin II (TCN2) and transcobalamin receptor (TCblR) proteins are involved in the cellular uptake of Cbl. TCN2 binds Cbl in the plasma, and TCblR binds TCN2-Cbl at the cell surface. Therefore, we investigated the potential association between polymorphisms in Cbl transport proteins, TCN2 and TCblR, and recurrent implantation failure (RIF) susceptibility. METHODS: The genotypes of TCN2 67A>G, TCN2 776C>G, and TCblR 1104C>T were determined for RIF patients and healthy controls using a polymerase chain reaction restriction fragment length polymorphism assay...
May 23, 2019: Journal of Assisted Reproduction and Genetics
Takuji Nakamura, Tomomi Satoh-Nakamura, Akio Nakajima, Takafumi Kawanami, Tomoyuki Sakai, Yoshimasa Fujita, Haruka Iwao, Miyuki Miki, Yasufumi Masaki, Toshiro Okazaki, Yasuhito Ishigaki, Mitsuhiro Kawano, Kazunori Yamada, Shoko Matsui, Takako Saeki, Terumi Kamisawa, Motohisa Yamamoto, Hideaki Hamano, Tomoki Origuchi, Shintaro Hirata, Yoshiya Tanaka, Hiroto Tsuboi, Takayuki Sumida, Kazuichi Okazaki, Masao Tanaka, Tsutomu Chiba, Tsuneyo Mimori, Hisanori Umehara
Background: IgG4-related disease (IgG4-RD) is characterized by elevated serum IgG4 and tissue infiltration by IgG4-positive plasma cells. The pathogenesis of this disease is not clear. Transcriptome analysis was performed to identify genes over- and under-expressed in patients with IgG4-RD. Method: DNA microarray analysis was performed using RNA from peripheral blood mononuclear cells of two patients with IgG4-RD and four healthy individuals. Genes showing a greater than threefold change in expression in IgG4-RD patients following steroid therapy were identified...
July 11, 2019: Modern Rheumatology
Ch S Pavlov, I V Damulin, Yu O Shulpekova, E A Andreev
The review discusses thesteps of vitamin B12 metabolism and its role in maintaining of neurological functions. The term "vitamin B12 (cobalamin)" refers to several substances (cobalamins) of a very similar structure. Cobalamin enters the body with animal products. On the peripherу cobalamin circulates only in binding with proteins transcobalamin I and II (complex cobalamin-transcobalamin II is designated as "holotranscobalamin"). Holotranscobalamin is absorbed by different cells, whereas transcobalamin I-binded vitamin B12 - only by liver and kidneys...
May 16, 2019: Terapevticheskiĭ Arkhiv
Antonio Mastroianni, Chiara Maura Ciniselli, Rossella Panella, Alessandra Macciotta, Adalberto Cavalleri, Elisabetta Venturelli, Francesca Taverna, Arabella Mazzocchi, Eleonora Bruno, Paola Muti, Franco Berrino, Paolo Verderio, Daniele Morelli, Patrizia Pasanisi
Metformin (MET) is currently being used in several trials for cancer prevention or treatment in non-diabetics. However, long-term MET use in diabetics is associated with lower serum levels of total vitamin B12 . In a pilot randomized controlled trial of the Mediterranean diet (MedDiet) and MET, whose participants were characterized by different components of metabolic syndrome, we tested the effect of MET on serum levels of B12 , holo transcobalamin II (holo-TC-II), and methylmalonic acid (MMA). The study was conducted on 165 women receiving MET or placebo for three years...
May 7, 2019: Nutrients
Sergey N Fedosov, Ebba Nexo, Christian W Heegaard
Milk is an important source of highly bioavailable vitamin B12 (cobalamin) in human nutrition. In most animal products, vitamin B12 is strongly bound to various specific protein carriers. The 2 vitamin B12 -specific proteins, predominantly transcobalamin (TC) and haptocorrin (HC), were earlier found in milk from Holstein Friesian cows and in human or sow milk, respectively. As the type of vitamin B12 binders may influence bioavailability of the vitamin, we examined vitamin B12 carriers in pooled milk specimens derived from European and Indian cow and buffalo herds...
March 27, 2019: Journal of Dairy Science
Khalid M Al-Batayneh, Mazhar Salim Al Zoubi, Bahaa Al-Trad, Emad Hussein, Wesam Al Khateeb, Alaa A A Aljabali, Khaldon Bodoor, Murad Shehab, Mohammad A Al Hamad, Greg J Eaton, Christopher T Cornelison
Vitamin B12 (Cobalamin) deficiency, due to improper internalization of cobalamin, is a metabolic disorder prevalent in impoverished and elderly populations and is associated with megaloblastic anemia and dementia. It has been suggested that mutations in transcobalamin II ( TCN2) or gastric intrinsic factor (GIF) proteins can alter their binding efficiency to cobalamin or reduce the ability of their receptors to internalize them. In this case-control study, the correlation between vitamin B12 deficiency and alternative alleles of TCN2 and GIF was investigated in a Jordanian population...
February 14, 2019: International Journal for Vitamin and Nutrition Research. Journal International de Vitaminologie et de Nutrition
Sharmistha Saha, Tanusree Saha, Swagata Sinha, Usha Rajamma, Kanchan Mukhopadhyay
OBJECTIVES: Proper metabolism of the folate is crucial for maintaining DNA integrity, chromosome structure, methylation, as well as gene expression, and thus, folate is speculated to contribute to the etiology of different disorders. Since the etiology of autism spectrum disorder (ASD) is believed to be influenced by both genetic and environmental factors, we hypothesized that functional single nucleotide polymorphisms (SNPs) affecting folate metabolic pathway may have a causal role in the etiology of ASD...
January 24, 2019: Nutritional Neuroscience
Christian B Juul, Sergey N Fedosov, Ebba Nexo, Christian W Heegaard
We suggest a novel kinetic approach to quantify receptor - ligand interactions via the cellular transport and/or accumulation of the ligand. The system of cobalamin (Cbl, vitamin B12) transport was used as a model, because Cbl is an obligatory cofactor, taken up by animal cells with the help of a transport protein and a membrane receptor. Bovine transcobalamin (bTC) stimulated the cellular accumulation and transcytosis of radioactive [57 Co]Cbl in polarized monolayers of Caco-2 cells. The bovine protein was much more efficient than human TC...
December 19, 2018: Molecular Biology of the Cell
Thanise Sabrina Souza Santos, Cristina Julian, Dalton Francisco de Andrade, Betzabeth Slater Villar, Raffaela Piccinelli, Marcela González-Gross, Fréderic Gottrand, Odysseas Androutsos, Mathilde Kersting, Nathalie Michels, Inge Huybrechts, Kurt Widhalm, Dénes Molnár, Ascensión Marcos, Manuel J Castillo-Garzón, Luis A Moreno
OBJECTIVE: To analyse the Nutritional Knowledge Test (NKT) using Item Response Theory (ITR) analysis and to assess the construct validity of the Nutritional Knowledge Scale (NKTS) and its associations with adolescent food group consumption and nutritional biomarkers. DESIGN: Cross-sectional study. SETTING: Multicentre investigation conducted in ten European cities.ParticipantsAdolescents aged 12·5-17·5 years (n 3215) who completed over 75 % of the NKT...
December 3, 2018: Public Health Nutrition
Mingyang Zou, Caihong Sun, Shuang Liang, Yi Sun, Dexin Li, Ling Li, Lili Fan, Lijie Wu, Wei Xia
Autism spectrum disorders (ASDs) are neurodevelopmental disorders with an increasing prevalence but lack reliable biomarkers for early diagnosis. The present study investigated 13 serological metabolites and 2 genetic variants related to folate metabolism in a total of 89 ASD cases and 89 matched controls. Fisher discriminant analysis was used to establish the classification model to recognize ASD cases and controls. Ten metabolites were significantly different between the groups, of which six metabolites were used as predictors to determine the discriminant prediction model: vitamin B12, 5-methylene-tetrahydrofolate, methonine, the ratio of S-adenosylmethionine/S-adenosylhomocysteine, methionine synthase and transcobalamin II...
October 13, 2018: Journal of Nutritional Biochemistry
Abhilasha Sampagar, Umesh Lukade, Sandip Bartakke
No abstract text is available yet for this article.
October 2018: Indian Journal of Hematology & Blood Transfusion
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