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CYP24A1

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https://www.readbyqxmd.com/read/28013309/clinical-and-genetic-characterization-of-tunisian-children-with-hereditary-1-25-dihydroxyvitamin-d-resistant-rickets
#1
Salma Ben Ameur, Caroline Silve, Imene Chabchoub, Fatma Damak, Fatma Kamoun, Aurélie Toussaint, Sana Kmiha, Lamia Sfaihi, Ines Maaloul, Thouraya Kamoun, Hajer Aloulou, Mongia Hachicha
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor (VDR) gene. Some HVDRR patients also have alopecia. PATIENTS AND METHODS: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. RESULTS: Eight patients from 7 families met the inclusion criteria...
December 24, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28009432/genetic-polymorphisms-of-vitamin-d-receptor-vdr-cyp27b1-and-cyp24a1-genes-and-the-risk-of-colorectal-cancer
#2
Verônica Marques Vidigal, Tiago Donizetti Silva, Juliana de Oliveira, Célia Aparecida Marques Pimenta, Aledson Vitor Felipe, Nora Manoukian Forones
INTRODUCTION: Vitamin D receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 involved in the production and inactivation of vitamin D can influence vitamin D and the susceptibility to colorectal cancer (CRC). The objective of this study was to investigate the relationship between the risk of CRC and polymorphisms in VDR, CYP27B1 and CYP24A1, lifestyle and dietary habits. METHODS: The study included 152 patients with CRC and 321 controls. All participants answered a questionnaire on their dietary habits, alcohol consumption and smoking habits...
December 22, 2016: International Journal of Biological Markers
https://www.readbyqxmd.com/read/27978548/vitamin-d-receptor-genotype-vitamin-d3-supplementation-and-risk-of-colorectal-adenomas-a-randomized-clinical-trial
#3
Elizabeth L Barry, Janet L Peacock, Judy R Rees, Roberd M Bostick, Douglas J Robertson, Robert S Bresalier, John A Baron
Importance: Despite epidemiological and preclinical evidence suggesting that vitamin D and calcium inhibit colorectal carcinogenesis, daily supplementation with these nutrients for 3 to 5 years was not found to significantly reduce the risk of recurrent colorectal adenomas in a recent randomized clinical trial. Objective: To investigate whether common variants in 7 vitamin D and calcium pathway genes (VDR, GC, DHCR7, CYP2R1, CYP27B1, CYP24A1, and CASR) modify the effects of vitamin D3 or calcium supplementation on colorectal adenoma recurrence...
December 15, 2016: JAMA Oncology
https://www.readbyqxmd.com/read/27977320/selection-of-high-quality-spermatozoa-may-be-promoted-by-activated-vitamin-d-in-the-woman
#4
Lasse Bøllehuus Hansen, Anders Rehfeld, Rosanna de Neergaard, John Erik Nielsen, Lea Hedegaard Iversen, Ida Marie Boisen, Li Juel Mortensen, Beate Lanske, Kristian Almstrup, Elisabeth Carlsen, Anders Hayden Berg, Niels Jørgensen, Anders Nyboe Andersen, Anders Juul, Martin Blomberg Jensen
CONTEXT: The vitamin D receptor (VDR) and enzymes involved in activation (CYP2R1, CYP27B1) and inactivation (CYP24A1) of vitamin D are expressed in ovary, testes, and spermatozoa. OBJECTIVE: Determine responsiveness to 1,25-dihydroxyvitamin D (1,25(OH)2D3) in spermatozoa from normal and infertile men, identify site of exposure and how 1,25(OH)2D3 influences sperm function. DESIGN: Spermatozoa expressing VDR, CYP2R1, CYP27B1, and CYP24A1 were analyzed in normal and infertile men...
December 15, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27973470/nutritional-rickets-vitamin-d-calcium-and-the-genetic-make-up
#5
Mohamed El Kholy, Heba Elsedfy, Monica Fernández-Cancio, Rasha Tarif Hamza, Nermine Hussein Amr, Alaa Youssef Ahmed, Nadin Nabil Toaima, Laura Audí
BACKGROUND: The prevalence of vitamin D (vitD) deficiency presenting as rickets is increasing worldwide. Insufficient sun exposure, vitD administration, and/or calcium intake are the main causes. However, vitD system-related genes may also have a role. METHODS: Prospective study: 109 rachitic children completed a 6-mo study period or until rachitic manifestations disappeared. Thirty children were selected as controls. Clinical and biochemical data were evaluated at baseline in patients and controls and biochemistry re-evaluated at radiological healing...
December 14, 2016: Pediatric Research
https://www.readbyqxmd.com/read/27966076/the-level-of-testosterone-vitamin-d-and-irregular-menstruation-more-important-than-omega-3-in-non-symptomatic-women-will-define-the-fate-of-multiple-scleroses-in-future
#6
Shima Tavakol, Sahar Shakibapour, Sepideh Arbabi Bidgoli
Multiple sclerosis is one of the most salient degenerative disorders of CNS with dysregulated immune process that resulted in axonal damage and demyelination. In the present investigation, the serum level of testosterone was assessed in women who were struggling with multiple sclerosis (MS). Also, the level of omega-3, vitamin D, and the irregular menstruation in women 5 years before the onset MS symptoms were surveyed. Although the levels of omega-3 and vitamin D in women MS patients were non-significant and significantly less than the healthy ones, they were significantly less in the whole population of MS patients...
December 13, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/27930936/sunlight-exposure-increases-vitamin-d-sufficiency-in-growing-pigs-fed-a-diet-formulated-to-exceed-requirements
#7
B M Alexander, B C Ingold, J L Young, S R Fensterseifer, P J Wechsler, K J Austin, D E Larson-Meyer
Traditional confinement practices limit exposure to sunlight and vitamin D synthesis, and vitamin insufficiency occurs even with dietary supplementation. The aim of this study was to determine the effect of limited sun exposure on serum concentration of vitamin D and the expression of vitamin D synthesizing enzymes in the liver and kidney of pigs on a vitamin D sufficient diet. White-pigmented grower pigs (29.7 ± 2.3 kg) fed 15% CP diet ad libitum providing >1,200 IU vitamin D3/kg of feed were exposed to sunlight for 1 h each day at solar noon for 14 d at the spring equinox (March pigs, n = 10) or summer solstice (June pigs, n = 5) and again before slaughter in June (March pigs) and September (June pigs)...
November 11, 2016: Domestic Animal Endocrinology
https://www.readbyqxmd.com/read/27927781/genetic-variants-associated-with-circulating-parathyroid-hormone
#8
Cassianne Robinson-Cohen, Pamela L Lutsey, Marcus E Kleber, Carrie M Nielson, Braxton D Mitchell, Joshua C Bis, Karen M Eny, Laura Portas, Joel Eriksson, Mattias Lorentzon, Daniel L Koller, Yuri Milaneschi, Alexander Teumer, Stefan Pilz, Maria Nethander, Elizabeth Selvin, Weihong Tang, Lu-Chen Weng, Hoi Suen Wong, Dongbing Lai, Munro Peacock, Anke Hannemann, Uwe Völker, Georg Homuth, Matthias Nauk, Federico Murgia, Jack W Pattee, Eric Orwoll, Joseph M Zmuda, Jose Antonio Riancho, Myles Wolf, Frances Williams, Brenda Penninx, Michael J Econs, Kathleen A Ryan, Claes Ohlsson, Andrew D Paterson, Bruce M Psaty, David S Siscovick, Jerome I Rotter, Mario Pirastu, Elizabeth Streeten, Winfried März, Caroline Fox, Josef Coresh, Henri Wallaschofski, James S Pankow, Ian H de Boer, Bryan Kestenbaum
Parathyroid hormone (PTH) is a primary calcium regulatory hormone. Elevated serum PTH concentrations in primary and secondary hyperparathyroidism have been associated with bone disease, hypertension, and in some studies, cardiovascular mortality. Genetic causes of variation in circulating PTH concentrations are incompletely understood. We performed a genome-wide association study of serum PTH concentrations among 29,155 participants of European ancestry from 13 cohort studies (n=22,653 and n=6502 in discovery and replication analyses, respectively)...
December 7, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27923594/synthesis-of-the-cyp24a1-major-metabolite-of-2%C3%AE-2-tetrazol-2-yl-ethyl-1%C3%AE-25-dihydroxyvitamin-d3
#9
Masashi Takano, Kaori Yasuda, Eri Tohyama, Erika Higuchi, Toshiyuki Sakaki, Atsushi Kittaka
Previously, we found that 2α-[2-(tetrazol-2-yl)ethyl]-1α,25-dihydroxyvitamin D3 (AH-1) showed higher osteocalcin promoter transactivation activity in human osteosarcoma (HOS) cells and a greater therapeutic effect on ovariectomized (OVX) rats for enhancing bone mineral density than those of 1α,25(OH)2D3 without hypercalcemic side effects in vivo. Although CYP24A1 catalyzes multi-step oxidations toward the CD-ring side chain of the active vitamin D3 [1α,25(OH)2D3], the CYP24A1-dependent metabolism of AH-1 tended to stop at the first step hydroxylation at the C24-position of AH-1...
December 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27922682/gene-expression-profiles-of-cyp24a1-and-cyp27b1-in-malignant-and-normal-breast-tissues
#10
Naghmeh Zhalehjoo, Yadollah Shakiba, Mojtaba Panjehpour
Active vitamin D has several antitumor effects, including prodifferentiative, antiproliferative and proapoptotic functions in a number of tissues via its binding to vitamin D receptor. The 24‑hydroxylase (CYP24A1) and 1‑hydroxylase (CYP27B1) enzymes are considered to be pivotal determinants of the local concentration of active vitamin D. The aim of the present study was to investigate the mRNA expression levels of the CYP24A1 and CYP27B1 genes in malignant and normal breast tissues. The tumor and adjacent normal tissue samples of 30 patients with breast cancer were acquired from the Iran National Tumor Bank, Imam Hospital (Tehran, Iran)...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27893751/25-hydroxy-and-1%C3%AE-25-dihydroxycholecalciferol-have-greater-potencies-than-25-hydroxy-and-1%C3%AE-25-dihydroxyergocalciferol-in-modulating-cultured-human-and-mouse-osteoblast-activities
#11
Allahdad Zarei, Philippa A Hulley, Afsie Sabokbar, M Kassim Javaid, Alireza Morovat
Despite differences in the phamacokinetics of 25-hydroxycholecalciferol (25(OH)D3) and 25-hydroxyergocalciferol (25(OH)D2) in man, the effects of these and their 1α-hydroxylated forms (1,25(OH)2D3 and 1,25(OH)2D2) on cellular activity of vitamin D-responsive cells have hardly been compared. We studied differences in the effects of these metabolites on cell number, gene transcription, protein expression and mineralisation of cultured human bone marrow-derived stromal cells (hBMSC) and rapidly mineralising mouse 2T3 osteoblasts...
2016: PloS One
https://www.readbyqxmd.com/read/27889974/-vitamin-d-metabolism-and-signaling-in-human-hepatocellular-carcinoma-and-surrounding-non-tumorous-liver
#12
Evelin Horváth, Bernadett Balla, János Kósa, Péter András Lakatos, Áron Lazáry, Dániel Németh, Hasan Jozilan, Áron Somorácz, Anna Korompay, Benedek Gyöngyösi, Katalin Borka, András Kiss, Péter Kupcsulik, Zsuzsa Schaff, Ferenc Szalay
INTRODUCTION: 1,25-Dihydroxy vitamin D3 mediates antitumor effects in hepatocellular carcinoma. AIM: We examined mRNA and protein expression differences in 1,25-Dihydroxy vitamin D3-inactivating CYP24A1, mRNA of activating CYP27B1 enzymes, and that of VDR between human hepatocellular carcinoma and surrounding non-tumorous liver. METHODS: Snap-frozen tissues from 13 patients were studied for mRNA and protein expression of CYP24A1. Paraffin-embedded tissues from 36 patients were used to study mRNA of VDR and CYP27B1...
November 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27885408/erratum-to-a-novel-cyp24a1-genotype-associated-to-a-clinical-picture-of-hypercalcemia-nephrolithiasis-and-low-bone-mass
#13
Pietro Manuel Ferraro, Angelo Minucci, Aniello Primiano, Elisa De Paolis, Jacopo Gervasoni, Silvia Persichilli, Alessandro Naticchia, Ettore Capoluongo, Giovanni Gambaro
No abstract text is available yet for this article.
November 24, 2016: Urolithiasis
https://www.readbyqxmd.com/read/27825992/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-adults-with-inhaled-corticosteroid-treated-asthma-in-london-uk
#14
REVIEW
David A Jolliffe, Kate Kilpin, Beverley D MacLaughlin, Claire L Greiller, Richard L Hooper, Neil C Barnes, Peter M Timms, Raj K Rajakulasingam, Angshu Bhowmik, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Christopher J Corrigan, Robert T Walton, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in children with asthma, and it associates with poor asthma control, reduced forced expiratory volume in one second (FEV1) and increased requirement for inhaled corticosteroids (ICS). Cross-sectional studies investigating the prevalence, determinants and clinical correlates of vitamin D deficiency in adults with asthma are lacking. We conducted a multi-centre cross-sectional study in 297 adults with a medical record diagnosis of ICS-treated asthma living in London, UK. Details of potential environmental determinants of vitamin D status, asthma control and medication use were collected by questionnaire; blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction, and participants underwent measurement of weight, height and fractional exhaled nitric oxide concentration (FeNO), spirometry and sputum induction for determination of lower airway eosinophil counts (n=35 sub-group)...
November 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27825991/cyp24a1-deficiency-does-not-affect-bone-regeneration-in-distraction-osteogenesis
#15
REVIEW
Abdallah Husseini, René St-Arnaud
The putative biological activity of 24,25-(OH)2D remains unclear. Previous studies showed an increase in the circulating levels of this metabolite following fracture in chicks. Our laboratory has generated a mouse model deficient for the Cyp24a1 gene for studying the role of 24,25-(OH)2D. We set out to study the role of CYP24A1 and 24,25-(OH)2D in intramembranous bone formation during distraction osteogenesis in wild-type and Cyp24a1-deficient mice. Distraction osteogenesis was applied to mouse tibiae using a miniature external fixator apparatus...
November 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/27813049/genetic-expression-profile-of-vitamin-d-metabolizing-enzymes-in-the-first-trimester
#16
L Ekström, L Storbjörk, L Björkhem-Bergman
The aim of this study was to map the genetic expression of the vitamin D metabolizing enzymes CYP27A, CYP27B1, CYP2R1, and CYP24A1 in the first trimester in different human fetal tissues. In addition, the gene expression was correlated with fetal age, season, and presence of single nucleotide polymorphisms (SNPs) in the genes encoding CYP27A1 (rs4674344), CYP2R1 (rs2060793), and CYP24A1 (rs6013897). Fetal samples from livers (n=60), kidneys (n=43), lungs (n=37), and intestines (n=14) were analyzed by quantitative PCR...
December 2016: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/27798933/a-pediatric-patient-with-a-cyp24a1-mutation-four-years-of-clinical-biochemical-and-imaging-follow-up
#17
Diana-Alexandra Ertl, Adalbert Raimann, Dagmar Csaicsich, Janina M Patsch, Franco Laccone, Gabriele Haeusler
BACKGROUND: A female infant was admitted to hospital due to failure to thrive. She presented hypercalcemia (4.09 mmol/L, normal range: 2.2-2.65 mmol/L), high 25-hydroxyvitamin D (283 nmol/L, normal range: 75-250 nmol/L), 1,25-dihydroxyvitamin D in the upper normal range, and low parathyroid hormone. Vitamin D intoxication was suspected. The patient had received routine rickets prophylaxis. METHODS: Williams-Beuren syndrome was genetically excluded. Sequencing of CYP24A1 showed 2 mutations: c...
November 1, 2016: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/27793774/oncogenic-potential-of-cyp24a1-in-lung-adenocarcinoma
#18
Hiroe Shiratsuchi, Zhuwen Wang, Guoan Chen, Paramita Ray, Jules Lin, Zhuo Zhang, Lili Zhao, David Beer, Dipankar Ray, Nithya Ramnath
INTRODUCTION: We have previously demonstrated that a subset of lung cancer cells express higher CYP24A1 mRNA, a metabolizing enzyme for 1,25-D3, compared to benign tumors or surrounding normal lung and that high CYP24A1 mRNA expression is associated with poor prognosis in resected lung adenocarcinoma (AC). We hypothesized that CYP24A1 has oncogenic potential and increased CYP24A1 expression may contribute to tumor growth, whereas, CYP24A1 targeting may reduce tumor burden. METHODS: Two low CYP24A1 expressing human lung cancer cell lines (SK-LU-1 and Calu-6) were stably transfected either with an empty lentiviral vector or with the CYP24A1 expressing vector...
October 26, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27785371/vitamin-d-receptor-expression-in-human-bone-tissue-and-dose-dependent-activation-in-resorbing-osteoclasts
#19
Allahdad Zarei, Alireza Morovat, Kassim Javaid, Cameron P Brown
The effects of vitamin D on osteoblast mineralization are well documented. Reports of the effects of vitamin D on osteoclasts, however, are conflicting, showing both inhibition and stimulation. Finding that resorbing osteoclasts in human bone express vitamin D receptor (VDR), we examined their response to different concentrations of 25-hydroxy vitamin D3 [25(OH)D3] (100 or 500 nmol·L(-1)) and 1,25-dihydroxy vitamin D3 [1,25(OH)2D3] (0.1 or 0.5 nmol·L(-1)) metabolites in cell cultures. Specifically, CD14+ monocytes were cultured in charcoal-stripped serum in the presence of receptor activator of nuclear factor kappa-B ligand (RANKL) and macrophage colony-stimulating factor (M-CSF)...
2016: Bone Research
https://www.readbyqxmd.com/read/27770255/characterisation-of-vitamin-d-related-molecules-and-calcium-sensing-receptor-in-human-fallopian-tube-during-the-menstrual-cycle-and-in-ectopic-pregnancy
#20
Bassem Refaat, Jawwad Ahmad, Shakir Idris, Fadi Fayez Kamfar, Ahmed Mohamed Ashshi, Sarah Abdullah Batwa, Faizah Ahmed Malibary
This is a prospective observational study that measures the expression of vitamin D (VD) metabolising and signalling molecules and Ca(2+) sensing receptor (CaSR) in human Fallopian tube (FT) during the menstrual cycle and ectopic pregnancy (EP). Fresh FTs were obtained during total abdominal hysterectomy at the follicular (n = 16) and midluteal (n = 16) phases. Specimens from remote and implantation sites as well as trophoblastic tissues were also freshly collected from each FT with EP (n = 10)...
October 22, 2016: Cell and Tissue Research
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