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CYP17A1

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https://www.readbyqxmd.com/read/29345162/genetic-defect-of-a-combined-17-%C3%AE-hydroxylase-17-20-lyase-deficiency-patient-with-adrenal-crisis
#1
Yunqiang Zhang, Xuyin Zhang, Yiqun Wang, Keqin Hua, Jingxin Ding
Combined 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare autosomal recessive disease that is a type of congenital adrenal hyperplasia, which results in hypertension, hypokalemia, sexual infantilism, primary amenorrhea in females (46,XX), or pseudohermaphroditism in males (46,XY). It is mainly caused by mutation in the CYP17A1 gene, which encodes a key enzyme in the steroidogenic pathway. However, these patients rarely experience adrenal crisis, due to abnormally high corticosterone levels. Here, we report a 17OHD patient who experienced clinical adrenal crisis on day 1 after gonadectomy...
January 18, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29340879/diethylstilbestrol-arrested-spermatogenesis-and-somatic-growth-in-the-juveniles-of-yellow-catfish-pelteobagrus-fulvidraco-a-fish-with-sexual-dimorphic-growth
#2
Zhi-Hao Liu, Qi-Liang Chen, Qiang Chen, Fang Li, Ying-Wen Li
In fish, spermatogenesis and somatic growth are mainly regulated by hypothalamic-pituitary-gonadal (HPG) and hypothalamic-pituitary-somatic (HPS) axes, respectively. Xenoestrogens have been reported to impair spermatogenesis in some fishes, and arrest somatic growth in some others, whereas, whether xenoestrogens are capable of disrupting spermatogenesis and somatic growth simultaneously in fish that exhibits sexual dimorphic growth is little known, and the underlying mechanisms remain poorly understood. In this study, male juveniles of yellow catfish (Pelteobagrus fulvidraco), which exhibits a sexual dimorphic growth that favors males, were exposed to diethylstilbestrol (DES) for 28 days...
January 16, 2018: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/29338791/associations-of-the-hypertension-related-single-nucleotide-polymorphism-rs11191548-with-high-density-lipoprotein-cholesterol-and-leptin-in-chinese-children
#3
Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu, Jie Mi
BACKGROUND: The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms are not understood and the associations of the SNP with hypertension-related traits are not fully described, especially in children. The aim of the present study is to investigate the associations between the SNP and two hypertension-related traits, lipids and leptin...
January 16, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29315709/successful-fertility-outcome-in-a-woman-with-17%C3%A9-hydroxylase-deficiency
#4
Henrik Falhammar
17ɑ-hydroxylase deficiency (17OHD) is a rare variant of congenital adrenal hyperplasia (CAH) due to mutations in the CYP17A1 gene.1, 2 This gene encodes an enzyme that expresses both 17α-hydroxylase and 17,20-lyase activities affecting both adrenal and gonadal sex steroid production.1 Due to the location of the enzyme in the steroidogenic pathway impairment results in elevated corticosterone, deoxycorticosterone and progesterone together with low levels of cortisol, 11-deoxycortisol, dehydroepiandrosterone sulphate (DHEAS) and 17-hydroxyprogesterone...
January 6, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29283561/human-p450-cyp17a1-control-of-substrate-preference-by-asparagine-202
#5
Michael C Gregory, Piotr J Mak, Yogan Khatri, James R Kincaid, Stephen G Sligar
CYP17A1 is a key steroidogenic enzyme known to conduct several distinct chemical transformations on multiple substrates. In its hydroxylase activity this enzyme adds a hydroxyl group at the 17α-position of both pregnenolone and progesterone at approximately equal rates. However, the subsequent 17,20 carbon-carbon scission reaction displays variable substrate speci-ficity in the numerous CYP17A1 isozymes operating in verte-brates, manifesting as different Kd and kcat values when presented with 17α-hydroxypregnenlone (OHPREG) versus 17α-hydroxyprogesterone (OHPROG)...
December 28, 2017: Biochemistry
https://www.readbyqxmd.com/read/29278670/a-novel-compound-heterozygous-mutation-in-the-cyp17a1-gene-in-a-patient-with-17%C3%AE-hydroxylase-17-20-lyase-deficiency
#6
Mengli Sun, Xiaoqing Yan, Anyun Feng, Xuemei Wu, Enling Ye, Huiying Wu, Xuemian Lu, Hong Yang
PURPOSE: 17α-hydroxylase/17,20-lyase deficiency is a rare disease caused by mutation of the CYP17A1 gene, resulting in hypertension, hypokalemia, alkalosis, female hypogonadism, and male pseudohermaphroditism. Here we report a case of a 15-year-old girl with 17α-hydroxylase/17,20-lyase deficiency, and analyze her clinical and molecular genetic characteristics. PATIENT AND METHODS: A 15-year-old Chinese girl had fever, fatigue, high blood pressure, and blood potassium level being significantly lower than normal...
November 2017: Discovery Medicine
https://www.readbyqxmd.com/read/29233455/genetic-variation-of-cytochrome-p450-in-uyghur-chinese-population
#7
Guangzhao Qi, Duolu Li, Xiaojian Zhang
Interindividual and interethnic variability of drug responses could be attributed to the differences of genetic polymorphisms in the drug metabolizing enzymes and transporters genes among the populations. Here we reviewed the studies of genetic variations in Uyghur Chinese of fifteen CYP450 genes including CYP1A1, CYP1A2, CYP2A6, CYP2B6, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP2J2, CYP2W1, CYP3A4, CYP3A5, CYP4A11, and CYP17A1, which totally covered 277 variants. We also collected the data of 277 variants covered in our study in two extensive population sequencing projects, the International HapMap Project (Hap-Map) and the 1000 Genomes Project and compared them with the data of Uyghur Chinese...
March 6, 2017: Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/29231996/molecular-mechanisms-of-tributyltin-induced-alterations-in-cholesterol-homeostasis-and-steroidogenesis-in-hamster-testis-in-vivo-and-in-vitro-studies
#8
V Kanimozhi, K Palanivel, M A Akbarsha, B Kadalmani
Tributyltins (TBT) are ubiquitous and persistent environmental contaminants that disturb normal endocrine function including gonadal function in humans and marine organisms. TBT was administered through oral route to male Syrian hamsters at daily doses of 50, 100 and 150 ppm/kg for 65 days. Changes in testis morphology, immunohistochemistry of iNOS, 3β-HSD and 17β-HSD, cholesterol transport receptor, nuclear receptors, and transcription factors were analyzed. TBT treatment affected each of these parameters to significant levels in a dose-dependent manner compared to vehicle treated control...
December 12, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29231195/hsd3b1-status-as-a-biomarker-of-androgen-deprivation-resistance-and-implications-for-prostate-cancer
#9
REVIEW
Daniel Hettel, Nima Sharifi
Patients with advanced prostate cancer who receive androgen deprivation therapy (ADT) almost invariably develop castration-resistant disease. The mechanism of resistance is largely based on synthesis of intratumoral androgens from adrenal precursors, requiring enzymatic action of 3β-hydroxysteroid dehydrogenase/Δ5→4 isomerase 1 (3β-HSD1), encoded by HSD3B1. A nucleotide polymorphism (1245A>C) in HSD3B1 results in a protein variant with increased steady-state levels and subsequently increased androgen synthesis from extragonadal precursors...
December 12, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/29229304/functional-characterization-of-the-g162r-and-d216h-genetic-variants-of-human-cyp17a1
#10
C P Capper, J Liu, L R McIntosh, J M Larios, M D Johnson, P F Hollenberg, Y Osawa, R J Auchus, J M Rae
Cytochrome P450 17A1 (CYP17A1) is a dual-function enzyme catalyzing reactions necessary for cortisol and androgen biosynthesis. CYP17A1 is a validated drug target for prostate cancer as CYP17A1 inhibition significantly reduces circulating androgens and improves survival in castration-resistant prostate cancer. Germline CYP17A1 genetic variants with altered CYP17A1 activity manifesting as various endocrinopathies are extremely rare; however, characterizing these variants provides critical insights into CYP17A1 protein structure and function...
December 8, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29228205/associations-between-polymorphisms-in-genes-related-to-estrogen-metabolism-and-function-and-prostate-cancer-risk-results-from-the-prostate-cancer-prevention-trial
#11
Li Tang, Mary E Platek, Song Yao, Cathee Till, Phyllis J Goodman, Catherine M Tangen, Yue Wu, Elizabeth A Platz, Marian L Neuhouser, Frank Z Stanczyk, Juergen K V Reichardt, Regina M Santella, Ann Hsing, William D Figg, Scott M Lippman, Ian M Thompson, Christine B Ambrosone
Substantial preclinical data suggest estrogen's carcinogenic role in prostate cancer development; however, epidemiological evidence based on circulating estrogen levels is largely null. Compared with circulating estrogen, the intraprostatic estrogen milieu may play a more important role in prostate carcinogenesis. Using a nested case-control design in the Prostate Cancer Prevention Trial (PCPT), we examined associations of genetic variants of genes that are involved in estrogen synthesis, metabolism and function with prostate cancer risk...
December 8, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/29208485/lactational-exposure-of-polychlorinated-biphenyls-impairs-leydig-cellular-steroidogenesis-in-f1-progeny-rats
#12
Sathish Kumar Thangavelu, Sugantha Priya Elaiyapillai, Ilangovan Ramachandran, Ravi Sankar Bhaskaran, Arunakaran Jagadeesan
The present study was aimed to determine the effects of lactational exposure of PCBs (Aroclor 1254) on Leydig cellular steroidogenesis in F1 progeny rats. Lactating dams were orally treated by gavage with different doses of PCBs (1, 2 and 5mg/kg b.wt./day). Male progenies were sacrificed on PND60. Our results demonstrated that exposure to PCBs decreased the body weight, testis weight and anogenital distance (AGD) index in the F1 progeny rats. Importantly, PCBs exposure reduced the serum levels of LH, testosterone and estradiol...
December 2, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/29207342/accelerated-skin-wound-healing-by-selective-11%C3%AE-hydroxylase-cyp11b1-inhibitors
#13
Juliette Emmerich, Chris J van Koppen, Jens L Burkhart, Roger T Engeli, Qingzhong Hu, Alex Odermatt, Rolf W Hartmann
Previous studies have shown that inhibition of cortisol biosynthesis in skin leads to accelerated wound healing. Here, pyridylmethyl pyridine type 11β-hydroxylase (CYP11B1) inhibitors were optimized for topical application to avoid systemic side effects. The resulting very potent, non-toxic CYP11B1 inhibitor 14 (IC50 = 0.8 nM) exhibited good selectivity over 11β-HSD1, CYP17A1 and CYP19A1. The compound showed high stability toward human plasma (t1/2= > 150 min, as a substitute for wound fluid) and low stability toward HLS9 (t1/2 = 19 min) for rapid metabolic clearance after absorption...
November 21, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29197250/in-utero-single-low-dose-exposure-of-cadmium-induces-rat-fetal-leydig-cell-dysfunction
#14
Xiaojun Li, Jianpeng Liu, Siwen Wu, Wenwen Zheng, Huitao Li, Suhao Bao, Yong Chen, Xiaoling Guo, Lei Zhang, Ren-Shan Ge
Cadmium chloride (Cd) is a potent endocrine disruptor and may cause the malformation in the male reproductive tract. However, the effects of a single in utero exposure to low doses of Cd on fetal Leydig cell development are still unknown. The objective of this study is to investigate the effects of a single in utero exposure to low doses of Cd on rat fetal Leydig cell development. Adult 64-day-old Sprague-Dawley dams received a single intraperitoneal injection of 0, 0.25, 0.5, and 1.0 mg/kg Cd on gestational day 12...
November 28, 2017: Chemosphere
https://www.readbyqxmd.com/read/29197246/combined-toxicity-of-endosulfan-and-phenanthrene-mixtures-and-induced-molecular-changes-in-adult-zebrafish-danio-rerio
#15
Kyeongnam Kim, Hwang-Ju Jeon, Sung-Deuk Choi, Daniel C W Tsang, Patryk Oleszczuk, Yong Sik Ok, Hoi-Seon Lee, Sung-Eun Lee
Individual and combined toxicities of endosulfan (ENDO) with phenanthrene (PHE) were evaluated using zebrafish (Danio rerio) adults. The 96-h LC50 values for ENDO and PHE were 4.6 μg L-1 and 920 μg L-1, respectively. To evaluate the mixture toxicity, LC10 and LC50 concentrations were grouped into four combinations as ENDO-LC10 + PHE-LC10, ENDO-LC10 + PHE-LC50, ENDO-LC50 + PHE-LC10, and ENDO-LC50 + PHE-LC50, and their acute toxicities were determined. The combination of LC50-ENDO and LC10-PHE exhibited a synergistic effect...
November 23, 2017: Chemosphere
https://www.readbyqxmd.com/read/29183745/comparison-of-17-20-e-21-norpregnene-oxazolinyl-and-benzoxazolyl-derivatives-as-inhibitors-of-cyp17a1-activity-and-prostate-carcinoma-cells-growth
#16
Vladimir A Zolottsev, Yaroslav V Tkachev, Alexandra S Latysheva, Vladimir A Kostin, Roman A Novikov, Vladimir P Timofeev, Galina E Morozevich, Alexey V Kuzikov, Victoria V Shumyantseva, Alexander Y Misharin
Four new 4,5-dihydro-1,3-oxazole, and four new benzo-[d]-oxazole derivatives of [17(20)E]-21-norpregnene, differing in the structure of steroid moiety, were synthesized and evaluated for their potency to inhibit 17α-hydroxylase/17,20-lyase (CYP17A1) activity. Among new compounds, the only oxazolinyl derivative comprising 5-oxo-4,5-seco-3-yn- moiety potently inhibited CYP17A1. Binding modes of the oxazolinyl derivatives of [17(20)E]-21-norpregnene were analyzed by molecular dynamics simulations, and model of alternate, water-bridged type II interaction was proposed for these compounds...
November 25, 2017: Steroids
https://www.readbyqxmd.com/read/29180966/parathyroid-hormone-related-protein-promotes-rat-stem-leydig-cell-differentiation
#17
Tiantian Song, Yiyan Wang, Huitao Li, Lanlan Chen, Jianpeng Liu, Xianwu Chen, Xiaojun Li, Xiaoheng Li, Linxi Li, Qingquan Lian, Ren-Shan Ge
The regulatory factors for stem Leydig cell development are largely unknown. Herein, we reported that parathyroid hormone-related protein (PTHrP) may be a factor to regulate this process. The effects of PTHrP on rat stem Leydig cell proliferation and differentiation were investigated using a stem Leydig cell culture system and an ethane dimethane sulfonate (EDS)-treated in vivo Leydig cell regeneration model. PTHrP (1,000 pg/ml) significantly increased medium testosterone level and up-regulated STAR, CYP17A1, and 17β-HSD3 expressions...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29180110/interleukin-6-inhibits-the-differentiation-of-rat-stem-leydig-cells
#18
Yiyan Wang, Lanlan Chen, Lubin Xie, Linchao Li, Xiaoheng Li, Huitao Li, Jianpeng Liu, Xianwu Chen, Baiping Mao, Tiantian Song, Qingquan Lian, Ren-Shan Ge
Inflammation causes male hypogonadism. Several inflammatory cytokines, including interleukin 6 (IL-6), are released into the blood and may suppress Leydig cell development. The objective of the present study was to investigate whether IL-6 affected the proliferation and differentiation of rat stem Leydig cells. Leydig cell-depleted rat testis (in vivo) and seminiferous tubules (in vitro) with ethane dimethane sulfonate (EDS) were used to explore the effects of IL-6 on stem Leydig cell development. Intratesticular injection of IL-6 (10 and 100 ng/testis) from post-EDS day 14 to 28 blocked the regeneration of Leydig cells, as shown by the lower serum testosterone levels (21...
November 24, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29167276/pten-loss-promotes-intratumoral-androgen-synthesis-and-tumor-microenvironment-remodeling-via-aberrant-activation-of-runx2-in-castration-resistant-prostate-cancer
#19
Yinhui Yang, Yang Bai, Yundong He, Yu Zhao, Jiaxiang Chen, Linlin Ma, Yunqian Pan, Michael Hinten, Jun Zhang, R Jeffrey Karnes, Manish Kohli, Jennifer J Westendorf, Benyi Li, Runzhi Zhu, Haojie Huang, Wanhai Xu
PURPOSE: Intratumoral androgen synthesis (IAS) is a key mechanism promoting androgen receptor (AR) reactivation and anti-androgen resistance in castration-resistant prostate cancer (CRPC). However, signaling pathways driving aberrant IAS remain poorly understood.  Experimental Design: The effect of components of the AKT-RUNX2-osteocalcin (OCN)-GPRC6A-CREB signaling axis on expression of steroidogenesis genes CYP11A1 and CYP17A1 and testosterone level were examined in PTEN-null human PCa cell lines...
November 22, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29162857/temporal-expression-pattern-of-genes-during-the-period-of-sex-differentiation-in-human-embryonic-gonads
#20
Linn S Mamsen, Emil H Ernst, Rehannah Borup, Agnete Larsen, Rasmus H Olesen, Erik Ernst, Richard A Anderson, Stine G Kristensen, Claus Y Andersen
The precise timing and sequence of changes in expression of key genes and proteins during human sex-differentiation and onset of steroidogenesis was evaluated by whole-genome expression in 67 first trimester human embryonic and fetal ovaries and testis and confirmed by qPCR and immunohistochemistry (IHC). SRY/SOX9 expression initiated in testis around day 40 pc, followed by initiation of AMH and steroidogenic genes required for androgen production at day 53 pc. In ovaries, gene expression of RSPO1, LIN28, FOXL2, WNT2B, and ETV5, were significantly higher than in testis, whereas GLI1 was significantly higher in testis than ovaries...
November 21, 2017: Scientific Reports
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