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CYP24A1

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https://www.readbyqxmd.com/read/28231019/pro-inflammatory-cytokines-impair-vitamin-d-induced-host-defense-in-cultured-airway-epithelial-cells
#1
Jasmijn A Schrumpf, Gimano D Amatngalim, Joris B Veldkamp, Renate M Verhoosel, Dennis K Ninaber, Soledad R Ordonez, Anne M van der Does, Henk P Haagsman, Pieter S Hiemstra
Vitamin D is a regulator of host defense against infections and induces expression of the antimicrobial peptide hCAP18/LL-37. Vitamin D deficiency is associated with chronic inflammatory lung diseases and respiratory infections. However, it is incompletely understood if and how (chronic) airway inflammation affects vitamin D metabolism and action. We hypothesized that long-term exposure of primary bronchial epithelial cells (PBEC) to pro-inflammatory cytokines alters their vitamin D metabolism, antibacterial activity and expression of hCAP18/LL-37...
February 23, 2017: American Journal of Respiratory Cell and Molecular Biology
https://www.readbyqxmd.com/read/28229929/intramammary-1-25-dihydroxyvitamin-d3-treatment-increases-expression-of-host-defense-genes-in-mammary-immune-cells-of-lactating-dairy-cattle
#2
Kathryn E Merriman, Michael B Poindexter, Mercedes F Kweh, Jose E P Santos, Corwin D Nelson
Bacterial infection of the mammary gland activates an intracrine vitamin D pathway in macrophages of dairy cows. The active hormone of the vitamin D pathway, 1,25-dihydroxyvitamin D3 (1,25D), stimulates nitric oxide and β-defensin responses in bovine monocyte cultures, but the effect of 1,25D on innate immune genes in the mammary gland remained unknown. Therefore, the objective of this study was to determine the effects intramammary 1,25D treatment on expression of vitamin D associated host-defenses of the bovine mammary gland...
February 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28218743/vitamin-d-signaling-and-melanoma-role-of-vitamin-d-and-its-receptors-in-melanoma-progression-and-management
#3
REVIEW
Andrzej T Slominski, Anna A Brożyna, Michal A Zmijewski, Wojciech Jóźwicki, Anton M Jetten, Rebecca S Mason, Robert C Tuckey, Craig A Elmets
Ultraviolet B (UVB), in addition to having carcinogenic activity, is required for the production of vitamin D3 (D3) in the skin which supplies >90% of the body's requirement. Vitamin D is activated through hydroxylation by 25-hydroxylases (CYP2R1 or CYP27A1) and 1α-hydroxylase (CYP27B1) to produce 1,25(OH)2D3, or through the action of CYP11A1 to produce mono-di- and trihydroxy-D3 products that can be further modified by CYP27B1, CYP27A1, and CYP24A1. The active forms of D3, in addition to regulating calcium metabolism, exert pleiotropic activities, which include anticarcinogenic and anti-melanoma effects in experimental models, with photoprotection against UVB-induced damage...
February 20, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28211524/epigenetic-and-genetic-dissections-of-uv-induced-global-gene-dysregulation-in-skin-cells-through-multi-omics-analyses
#4
Yao Shen, Milda Stanislauskas, Gen Li, Deyou Zheng, Liang Liu
To elucidate the complex molecular mechanisms underlying the adverse effects UV radiation (UVR) on skin homeostasis, we performed multi-omics studies to characterize UV-induced genetic and epigenetic changes. Human keratinocytes from a single donor treated with or without UVR were analyzed by RNA-seq, exome-seq, and H3K27ac ChIP-seq at 4 h and 72 h following UVR. Compared to the relatively moderate mutagenic effects of UVR, acute UV exposure induced substantial epigenomic and transcriptomic alterations, illuminating a previously underappreciated role of epigenomic and transcriptomic instability in skin pathogenesis...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28161533/prevalence-determinants-and-clinical-correlates-of-vitamin-d-deficiency-in-patients-with-chronic-obstructive-pulmonary-disease-in-london-uk
#5
David A Jolliffe, Wai Yee James, Richard L Hooper, Neil C Barnes, Claire L Greiller, Kamrul Islam, Angshu Bhowmik, Peter M Timms, Raj K Rajakulasingam, Aklak B Choudhury, David E Simcock, Elina Hyppönen, Robert T Walton, Christopher J Corrigan, Christopher J Griffiths, Adrian R Martineau
Vitamin D deficiency is common in patients with chronic obstructive pulmonary disease (COPD), yet a comprehensive analysis of environmental and genetic determinants of serum 25-hydroxyvitamin D (25[OH]D) concentration in patients with this condition is lacking. We conducted a multi-centre cross-sectional study in 278 COPD patients aged 41-92 years in London, UK. Details of potential environmental determinants of vitamin D status and COPD symptom control and severity were collected by questionnaire, and blood samples were taken for analysis of serum 25(OH)D concentration and DNA extraction...
February 1, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28139795/sunlight-exposure-is-just-one-of-the-factors-which-influence-vitamin-d-status
#6
M Abboud, M S Rybchyn, R Rizk, D R Fraser, R S Mason
Studies on the determinants of vitamin D status have tended to concentrate on input - exposure to ultraviolet B radiation and the limited sources in food. Yet, vitamin D status, determined by circulating concentrations of 25-hydroxyvitamin D (25(OH)D), can vary quite markedly in groups of people with apparently similar inputs of vitamin D. There are small effects of polymorphisms in the genes for key proteins involved in vitamin D production and metabolism, including 7-dehydrocholesterol reductase, which converts 7-dehydrocholesterol, the precursor of vitamin D, to cholesterol, CYP2R1, the main 25-hydroxylase of vitamin D, GC, coding for the vitamin D binding protein which transports 25(OH)D and other metabolites in blood and CYP24A1, which 24-hydroxylates both 25(OH)D and the hormone, 1,25-dihydroxyvitamin D...
January 31, 2017: Photochemical & Photobiological Sciences
https://www.readbyqxmd.com/read/28131909/differential-gene-expression-by-1-25-oh-2d3-in-an-endometriosis-stromal-cell-line
#7
Sue Ann Ingles, Liang Wu, Benjamin T Liu, Yibu Chen, Chun-Yeh Wang, Claire Templeman, Doerthe Brueggmann
Endometriosis is a common female reproductive disease characterized by invasion of endometrial cells into other organs, frequently causing pelvic pain and infertility. Alterations of the vitamin D system have been linked to endometriosis incidence and severity. To shed light on the potential mechanism for these associations, we examined the effects of 1,25(OH)2D3 on gene expression in endometriosis cells. Stromal cell lines derived from endometriosis tissue were treated with 1,25(OH)2D3, and RNA-seq was used to identify genes differentially expressed between treated and untreated cells...
January 28, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28130182/induction-of-cftr-gene-expression-by-1-25-oh-2-vitamin-d3-25oh-vitamin-d3-and-vitamin-d3-in-cultured-human-airway-epithelial-cells-and-in-mouse-airways
#8
Kristina M DiFranco, Jennifer K Mulligan, Aman S Sumal, Gill Diamond
Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which often leads to protein misfolding and no CFTR surface localization. This then leads to chronic airway infections, inflammation, and tissue damage. Although vitamin D has been explored as a therapy to treat CF due to its antimicrobial-inducing and anti-inflammatory properties, the effect of 1,25-dihydroxyvitamin D3 (1α,25(OH)2D3) on CFTR directly has not been studied...
January 24, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28122587/diseases-associated-with-calcium-sensing-receptor
#9
REVIEW
C Vahe, K Benomar, S Espiard, L Coppin, A Jannin, M F Odou, M C Vantyghem
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion. The diseases caused by an abnormality of the CaSR are genetically determined or are more rarely acquired. The genetic diseases consist of hyper- or hypocalcemia disorders. Hypercalcaemia disorders are related to inactivating mutations of the CASR gene either heterozygous (autosomal dominant familial benign hypercalcaemia, still named hypocalciuric hypercalcaemia syndrome type 1) or homozygous (severe neonatal hyperparathyroidism)...
January 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28109821/calcium-pyrophosphate-deposition-disease-revealing-a-hypersensitivity-to-vitamin-d
#10
Pauline Baudart, Arnaud Molin, Johann Cesini, Glenville Jones, Martin Kaufmann, Marie Laure Kottler, Christian Marcelli
OBJECTIVE: Hypersensitivity to vitamin D (HVD) due to a loss of function mutation of the CYP24A1 gene, which encodes vitamin D catabolizing enzyme was initially described as a cause of acute hypercalcemia in children and chronic renal diseases in adults. METHODS: We describe the first case of a patient presenting a calcium pyrophosphate deposition disease (CPDD) revealing a HVD. RESULTS: An abnormality of phospho-calcic metabolism was discovered during the course of an etiological workup for CPDD in a 52-year-old patient...
January 18, 2017: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/28104492/constitutively-active-ras-signaling-reduces-1-25-dihydroxyvitamin-d-mediated-gene-transcription-in-intestinal-epithelial-cells-by-reducing-vitamin-d-receptor-expression
#11
REVIEW
Marsha L DeSmet, James C Fleet
High vitamin D status is associated with reduced colon cancer risk but these studies ignore the diversity in the molecular etiology of colon cancer. RAS activating mutations are common in colon cancer and they activate pro-proliferative signaling pathways. We examined the impact of RAS activating mutations on 1,25 dihydroxyvitamin D (1,25(OH)2D)-mediated gene expression in cultured colon and intestinal cell lines. Transient transfection of Caco-2 cells with a constitutively active mutant K-RAS (G12 V) significantly reduced 1,25(OH)2D-induced activity of both a human 25-hydroxyvitamin D, 24 hydroxyase (CYP24A1) promoter-luciferase and an artificial 3X vitamin D response element (VDRE) promoter-luciferase reporter gene...
January 16, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28093352/cyp24a1-loss-of-function-clinical-phenotype-of-monoallelic-and-biallelic-mutations
#12
REVIEW
Thomas O Carpenter
CYP24A1, encoding the vitamin D-24-hydroxylase, is of major clinical and physiologic importance, serving to regulate the catabolism of 1,25-(OH)2D, the physiologically active vitamin D metabolite. In addition to facilitating catabolism of 1,25-(OH)2D, CYP24A1 also enhances the turnover and elimination of 25-OHD, the abundant precursor metabolite and storage form of the vitamin. CYP24A1 can be stimulated hormonally by 1,25-(OH)2D and by FGF23, whereas CYP27B1, encoding the vitamin D-1α-hydroxylase, is stimulated hormonally by parathyroid hormone (PTH) and downregulated by FGF23...
January 13, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28013309/clinical-and-genetic-characterization-of-tunisian-children-with-hereditary-1-25-dihydroxyvitamin-d-resistant-rickets
#13
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...
2017: 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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