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CYP24A1

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https://www.readbyqxmd.com/read/28526240/endocrine-actions-of-vitamin-d-in-skin-relevance-for-photocarcinogenesis-of-non-melanoma-skin-cancer-and-beyond
#1
REVIEW
Jörg Reichrath, Roman Saternus, Thomas Vogt
The skin represents a pivotal organ for the human body's vitamin D endocrine system, being both the site of ultraviolet (UV)-B-induced vitamin D synthesis and a target tissue for the pluripotent effects of 1,25(OH)2D3 and other biologically active vitamin D metabolites. As many other steroid hormones, 1,25(OH)2D3 exerts its effects via two independent signal transduction pathways: the classical genomic and the non-genomic pathway. While non-genomic effects of 1,25(OH)2D3 are in part exerted via effects on intracellular calcium, genomic effects are mediated by the vitamin D receptor (VDR)...
May 16, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28506446/serum-24-25-dihydroxyvitamin-d3-response-to-native-vitamin-d2%C3%A2-and%C3%A2-d3-supplementation-in-patients-with-chronic-kidney-disease%C3%A2-on%C3%A2-hemodialysis
#2
Laura A Graeff-Armas, Martin Kaufmann, Elizabeth Lyden, Glenville Jones
BACKGROUND & AIMS: While vitamin D deficiency is common in patients with end stage renal disease on dialysis and treatment with Vitamin D2 and Vitamin D3 is becoming increasingly common in these patients, little is known about 24,25(OH)2D3 metabolite production. Some authors report that the CYP24A1 enzyme is upregulated in CKD, but reports of low serum levels of 24,25(OH)2D3 in these patients bring this into question. Lack of substrate or increased clearance of the metabolite have been proposed as possible causes...
April 30, 2017: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28492801/orthotopic-tumorgrafts-in-nude-mice-as-a-model-to-evaluate-calcitriol-effects-in-breast-cancer
#3
V C N Fonseca-Filho, M L H Katayama, E C Lyra, D A Maria, R A Basso, S Nonogaki, J M Guerra, S Maistro, J C G S Góes, M A A K Folgueira
Objectives: To establish a tumorgraft model, from freshly collected breast cancer samples, which were directly implanted in nude mice, to study calcitriol effects. Methods: Breast cancer samples collected from 12 patients were orthotopically implanted into nude mice. Animals were treated with weekly intratumoral injections of calcitriol 3 μg/Kg, which was previously shown to induce peak serum calcitriol levels in the predicted therapeutic range. Results: Success engraftment rate was 25%...
May 4, 2017: Brazilian Journal of Biology, Revista Brasleira de Biologia
https://www.readbyqxmd.com/read/28470390/biallelic-mutations-in-cyp24a1-or-slc34a1-as-a-cause-of-infantile-idiopathic-hypercalcemia-iih-with-vitamin-d-hypersensitivity-molecular-study-of-11-historical-iih-cases
#4
Ewa Pronicka, Elżbieta Ciara, Paulina Halat, Agnieszka Janiec, Marek Wójcik, Elżbieta Rowińska, Dariusz Rokicki, Paweł Płudowski, Ewa Wojciechowska, Aldona Wierzbicka, Janusz B Książyk, Agnieszka Jacoszek, Martin Konrad, Karl P Schlingmann, Mieczysław Litwin
Idiopathic infantile hypercalcemia (IIH) is a mineral metabolism disorder characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. The periodical increase in incidence of IIH, which occurred in the twentieth century in the United Kingdom, Poland, and West Germany, turned out to be a side effect of rickets over-prophylaxis. It was recently discovered that the condition is linked to two genes, CYP24A1 and SLC34A1. The aim of the study was to search for pathogenic variants of the genes in adult persons who were shortlisted in infancy as IIH caused by "hypersensitivity to vit...
May 3, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28456639/-hypercalcemia-and-inactive-mutation-of-cyp24a1-case-study-and-literature-review
#5
Alexandre Seidowsky, Cédric Villain, Eve Vilaine, Roselyne Baudoin, Antoine Tabarin, Marie-Laure Kottler, Étienne Cavalier, Jean-Claude Souberbielle, Ziad A Massy
We present the case of a family whose members have high levels of serum calcium (hypercalcaemia) by loss of function of the enzyme vitamin D 24-hydroxylase due to bi-allelic mutations in the CYP24A1 gene: c.443 T>C (p.Leu148Pro) and c.1187 G>A (p.Arg396Gln). 24-VITD hydroxylase is a key player in regulating the circulating calcitriol, its tissue concentration and its biological effects. Transmission is recessive. The estimated prevalence of stones in the affected subjects is estimated between 10 and 15%...
April 26, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28453395/association-of-vitamin-d-pathway-snps-and-clinical-response-to-interferon-in-a-cohort-of-hbeag-negative-patients
#6
Jessica Cusato, Lucio Boglione, Amedeo De Nicolò, Rosaria Imbornone, Chiara Simona Cardellino, Valeria Ghisetti, Chiara Carcieri, Giuseppe Cariti, Giovanni Di Perri, Antonio D'Avolio
AIM: Vitamin D modulates biological processes; an influence of vitamin D levels and genetic variants was identified concerning hepatitis B virus infection. We evaluated the role of some SNPs of vitamin D pathway genes in some clinical features of hepatitis B affected patients treated with pegylated interferon. METHODS: We investigated SNPs in IL-28B, CYP27B1, CYP27A1, CYP24A1, VDBP and VDR genes, through real-time PCR. RESULTS:  VDRApaI SNP was associated to viral load and HBsAg presence at different timings...
April 28, 2017: Pharmacogenomics
https://www.readbyqxmd.com/read/28437713/reference-intervals-for-serum-24-25-dihydroxyvitamin-d-and-the-ratio-with-25-hydroxyvitamin-d-established-using-a-newly-developed-lc-ms-ms-method
#7
Jonathan C Y Tang, Holly Nicholls, Isabelle Piec, Christopher J Washbourne, John J Dutton, Sarah Jackson, Julie Greeves, William D Fraser
24,25(OH)2D is the product of 25(OH)D catabolism by CYP24A1. The measurement of serum 24,25(OH)2D concentration may serve as an indicator of vitamin D catabolic status and the relative ratio with 25(OH)D can be used to identify patients with inactivating mutations in CYP24A1. We describe a LC-MS/MS method to determine: (1) the relationships between serum 24,25(OH)2D and 25(OH)D; (2) serum reference intervals in healthy individuals; (3) the diagnostic accuracy of 24,25(OH)2D measurement as an indicator for vitamin D status; 4) 24,25(OH)2D cut-off value for clinically significant change between inadequate and sufficient 25(OH)D status...
April 12, 2017: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28362172/vitamin-d-signaling-pathways-confer-the-susceptibility-of-esophageal-squamous-cell-carcinoma-in-a-northern-chinese-population
#8
Jianzhou Yang, Haili Wang, Aifang Ji, Liang Ma, Jinsheng Wang, Changhong Lian, Zibai Wei, Lidong Wang
Experimental studies have determined the chemopreventive effects of vitamin D against the esophageal squamous cell carcinoma (ESCC); however, results from the epidemiological studies are not yet well established. The current study aimed to evaluate the associations between plasma vitamin D levels and variants on vitamin D metabolic-related genes with the risks for ESCC. A hospital-based case-control study was performed. Five hundred eighty-two ESCC patients and 569 controls were recruited in a Northern Chinese population...
March 31, 2017: Nutrition and Cancer
https://www.readbyqxmd.com/read/28342201/expression-of-oxysterol-pathway-genes-in-oestrogen-positive-breast-carcinomas
#9
Alzbeta Kloudova, Veronika Brynychova, Radka Vaclavikova, David Vrana, Jiri Gatek, Marcela Mrhalova, Roman Kodet, Pavel Soucek
OBJECTIVE: This study investigated whether gene expression levels of key modulators of the oxysterol signalling pathway modify the prognosis of patients with oestrogen receptor-positive (ER+) breast carcinomas via interaction with endocrine therapy. CONTEXT: The prognosis of patients with ER+ breast carcinoma depends on several factors. Previous studies have suggested that some oxygenated forms of cholesterol (oxysterols) bind to oestrogen receptor and anti-oestrogen binding site which may deregulate cholesterol homoeostasis and influence effect of therapy...
March 25, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28324001/cyp3a4-induction-by-rifampin-an-alternative-pathway-for-vitamin-d-inactivation-in-patients-with-cyp24a1-mutations
#10
Colin Patrick Hawkes, Dong Li, Hakon Hakonarson, Kevin E Meyers, Kenneth E Thummel, Michael A Levine
Context: The P450 enzyme CYP24A1 is the principal inactivator of vitamin D metabolites. Biallelic loss-of-function mutations in CYP24A1 are associated with elevated serum levels of 1,25-dihydroxyvitamin D3 with consequent hypercalcemia and hypercalciuria and represent the most common form of idiopathic infantile hypercalcemia (IIH). Current management strategies for this condition include a low-calcium diet, reduced dietary vitamin D intake, and limited sunlight exposure. CYP3A4 is a P450 enzyme that inactivates many drugs and xenobiotics and may represent an alternative pathway for inactivation of vitamin D metabolites...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28304097/improved-screening-test-for-idiopathic-infantile-hypercalcemia-confirms-residual-levels-of-serum-24-25-oh-2-d3-in-affected-patients
#11
Martin Kaufmann, Nicole Morse, Billy Joe Molloy, Donald P Cooper, Karl-Peter Schlingmann, Arnaud Molin, Marie Laure Kottler, J Christopher Gallagher, Laura Armas, Glenville Jones
BACKGROUND: CYP24A1 mutations are now accepted as a cause of idiopathic infantile hypercalcemia (IIH). A rapid LC-MS/MS-based blood test enabling measurement of the 25-OH-D3 :24,25-(OH)2 D3 ratio (R) can identify IIH patients on the basis of reduced C24-hydroxylation of 25-OH-D3 by CYP24A1 in vivo. While values of this ratio are significantly elevated in IIH, somewhat surprisingly, serum 24,25-(OH)2 D3 remains detectable. The current study explores possible explanations for this including: residual CYP24A1 enzyme activity in individuals with certain CYP24A1 genotypes, expression of alternative C24-hydroxylases, and the possibility of isobaric contamination of the 24,25-(OH)2 D3 peak on LC-MS/MS...
March 17, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28257826/structural-aspects-of-vitamin-d-endocrinology
#12
Natacha Rochel, Ferdinand Molnár
1α,25-Dihydroxvitamin D3 (1,25(OH)2D3) is the hormonally active form of vitamin D3. Its synthesis and its metabolites, their transport and elimination as well as action on transcriptional regulation involves the harmonic cooperation of diverse proteins with vitamin D binding capacities such as vitamin D binding protein (DBP), cytochrome P450 enzymes or the nuclear vitamin receptor (VDR). The genomic mechanism of 1,25(OH)2D3 action involves its binding to VDR that functionally acts as a heterodimer with retinoid X receptor...
February 28, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28253304/bone-mineral-density-is-associated-with-vitamin-d-related-rs6013897-and-estrogen-receptor-polymorphism-rs4870044-the-troms%C3%A3-study
#13
Ieva Martinaityte, Rolf Jorde, Nina Emaus, Anne Elise Eggen, Ragnar Martin Joakimsen, Elena Kamycheva
BACKGROUND: Bone mineral density (BMD) is determined by bone remodeling processes regulated by endocrine, autocrine and genetic mechanisms. Thus, some studies have reported that BMD is associated with single nucleotide polymorphisms (SNPs) associated with vitamin D receptor (VDR), serum 25(OH)D levels and estrogen receptor 1 (ESR1), but without consensus. Therefore, we aimed to map and compare the risk genotypes for forearm and total hip low BMD. METHODS AND FINDINGS: Data were derived from a population-based study in northern Norway; the Tromsø Study...
2017: PloS One
https://www.readbyqxmd.com/read/28242615/cyp24a1-attenuation-limits-progression-of-braf-v600e-induced-papillary-thyroid-cancer-cells-and-sensitizes-them-to-braf-v600e-inhibitor-plx4720
#14
Minjing Zou, Essa Y Baitei, Huda A BinEssa, Futwan A Al-Mohanna, Ranjit S Parhar, René St-Arnaud, Shioko Kimura, Catrin Pritchard, Ali S Alzahrani, Abdullah M Assiri, Brian F Meyer, Yufei Shi
CYP24A1, the primary inactivating enzyme for vitamin D, is often overexpressed in human cancers, potentially neutralizing the antitumor effects of calcitriol, the active form of vitamin D. However, it is unclear whether CYP24A1 expression serves as a functional contributor versus only a biomarker for tumor progression. In this study, we investigated the role of CYP24A1 on malignant progression of a murine model of Braf(V600E) -induced papillary thyroid cancer (PTC). Mice harboring wild-type Cyp24a1 (BVE(Cyp24a1-wt)) developed PTC at 5 weeks of age...
April 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28231019/pro-inflammatory-cytokines-impair-vitamin-d-induced-host-defense-in-cultured-airway-epithelial-cells
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
March 16, 2017: Photochemical & Photobiological Sciences
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