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Reduced sterol 27-hydroxylase activity

MedGen UID:
1841871
•Concept ID:
C5826591
•
Finding
HPO: HP:0034689

Definition

Diminished activity of the enzyme sterol 27-hydroxylase, which participates in the degradation of cholesterol to bile acid. Sterol 27-hydroxylase catalyzes the first step in the normal oxidation of the steroid side chain, converting cholesterol, as well as different 7a-hydroxylated cholesterol metabolites, to 27-oxygenated steroids. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced sterol 27-hydroxylase activity

Professional guidelines

PubMed

Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Moghadasian MH
Clin Invest Med 2004 Feb;27(1):42-50. PMID: 15061585

Recent clinical studies

Etiology

Gene Expression Profiling of Peripheral Blood Mononuclear Cells in Type 2 Diabetes: An Exploratory Study.
Fakhoury HMA, Elahi MA, Al Sarheed S, Al Dubayee M, Alshahrani A, Zhra M, Almassri A, Aljada A
Medicina (Kaunas) 2022 Dec 12;58(12) doi: 10.3390/medicina58121829. PMID: 36557031Free PMC Article
Effect and mechanism of vitamin D activation disorder on liver fibrosis in biliary atresia.
Sun S, Xu M, Zhuang P, Chen G, Dong K, Dong R, Zheng S
Sci Rep 2021 Oct 6;11(1):19883. doi: 10.1038/s41598-021-99158-3. PMID: 34615940Free PMC Article
Androgen receptor overexpression in prostate cancer in type 2 diabetes.
Lutz SZ, Hennenlotter J, Scharpf MO, Sailer C, Fritsche L, Schmid V, Kantartzis K, Wagner R, Lehmann R, Berti L, Peter A, Staiger H, Fritsche A, Fend F, Todenhöfer T, Stenzl A, Häring HU, Heni M
Mol Metab 2018 Feb;8:158-166. Epub 2017 Dec 5 doi: 10.1016/j.molmet.2017.11.013. PMID: 29249638Free PMC Article
Impact of 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol in breast cancer.
Kimbung S, Chang CY, Bendahl PO, Dubois L, Thompson JW, McDonnell DP, Borgquist S
Endocr Relat Cancer 2017 Jul;24(7):339-349. Epub 2017 Apr 25 doi: 10.1530/ERC-16-0533. PMID: 28442559
Metabolism of vitamin D3 by cytochromes P450.
Sakaki T, Kagawa N, Yamamoto K, Inouye K
Front Biosci 2005 Jan 1;10:119-34. doi: 10.2741/1514. PMID: 15574355

Diagnosis

Gene Expression Profiling of Peripheral Blood Mononuclear Cells in Type 2 Diabetes: An Exploratory Study.
Fakhoury HMA, Elahi MA, Al Sarheed S, Al Dubayee M, Alshahrani A, Zhra M, Almassri A, Aljada A
Medicina (Kaunas) 2022 Dec 12;58(12) doi: 10.3390/medicina58121829. PMID: 36557031Free PMC Article
Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.
Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, Harada-Shiba M
J Atheroscler Thromb 2021 Sep 1;28(9):905-925. Epub 2021 May 8 doi: 10.5551/jat.RV17055. PMID: 33967188Free PMC Article
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
Schneider H, Lingesleben A, Vogel HP, Garuti R, Calandra S
Orphanet J Rare Dis 2010 Oct 6;5:27. doi: 10.1186/1750-1172-5-27. PMID: 20925952Free PMC Article
Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.
von Bahr S, Björkhem I, Van't Hooft F, Alvelius G, Nemeth A, Sjövall J, Fischler B
J Pediatr Gastroenterol Nutr 2005 Apr;40(4):481-6. doi: 10.1097/01.mpg.0000150419.23031.2a. PMID: 15795599
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Moghadasian MH
Clin Invest Med 2004 Feb;27(1):42-50. PMID: 15061585

Therapy

Hesperidin alleviates cholestasis via activation of the farnesoid X receptor in vitro and in vivo.
Zhang G, Sun X, Wen Y, Shi A, Zhang J, Wei Y, Wu X
Eur J Pharmacol 2020 Oct 15;885:173498. Epub 2020 Aug 22 doi: 10.1016/j.ejphar.2020.173498. PMID: 32841642
Serum Cholesterol-Lowering Activity of β-Sitosterol Laurate Is Attributed to the Reduction of Both Cholesterol Absorption and Bile Acids Reabsorption in Hamsters.
Chen S, Wang R, Cheng M, Wei G, Du Y, Fan Y, Li J, Li H, Deng Z
J Agric Food Chem 2020 Sep 16;68(37):10003-10014. Epub 2020 Sep 6 doi: 10.1021/acs.jafc.0c04386. PMID: 32811147
Vitamin D Metabolism Is Dysregulated in Asthma and Chronic Obstructive Pulmonary Disease.
Jolliffe DA, Stefanidis C, Wang Z, Kermani NZ, Dimitrov V, White JH, McDonough JE, Janssens W, Pfeffer P, Griffiths CJ, Bush A, Guo Y, Christenson S, Adcock IM, Chung KF, Thummel KE, Martineau AR
Am J Respir Crit Care Med 2020 Aug 1;202(3):371-382. doi: 10.1164/rccm.201909-1867OC. PMID: 32186892Free PMC Article
Sterol 27-hydroxylase gene dosage and the antiatherosclerotic effect of Rifampicin in mice.
Zurkinden L, Sviridov D, Vogt B, Escher G
Biosci Rep 2018 Feb 28;38(1) Epub 2018 Jan 25 doi: 10.1042/BSR20171162. PMID: 29191818Free PMC Article
Impact of 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol in breast cancer.
Kimbung S, Chang CY, Bendahl PO, Dubois L, Thompson JW, McDonnell DP, Borgquist S
Endocr Relat Cancer 2017 Jul;24(7):339-349. Epub 2017 Apr 25 doi: 10.1530/ERC-16-0533. PMID: 28442559

Prognosis

Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.
Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, Harada-Shiba M
J Atheroscler Thromb 2021 Sep 1;28(9):905-925. Epub 2021 May 8 doi: 10.5551/jat.RV17055. PMID: 33967188Free PMC Article
Androgen receptor overexpression in prostate cancer in type 2 diabetes.
Lutz SZ, Hennenlotter J, Scharpf MO, Sailer C, Fritsche L, Schmid V, Kantartzis K, Wagner R, Lehmann R, Berti L, Peter A, Staiger H, Fritsche A, Fend F, Todenhöfer T, Stenzl A, Häring HU, Heni M
Mol Metab 2018 Feb;8:158-166. Epub 2017 Dec 5 doi: 10.1016/j.molmet.2017.11.013. PMID: 29249638Free PMC Article
Impact of 27-hydroxylase (CYP27A1) and 27-hydroxycholesterol in breast cancer.
Kimbung S, Chang CY, Bendahl PO, Dubois L, Thompson JW, McDonnell DP, Borgquist S
Endocr Relat Cancer 2017 Jul;24(7):339-349. Epub 2017 Apr 25 doi: 10.1530/ERC-16-0533. PMID: 28442559
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Metabolism of vitamin D3 by cytochromes P450.
Sakaki T, Kagawa N, Yamamoto K, Inouye K
Front Biosci 2005 Jan 1;10:119-34. doi: 10.2741/1514. PMID: 15574355

Clinical prediction guides

Hesperidin alleviates cholestasis via activation of the farnesoid X receptor in vitro and in vivo.
Zhang G, Sun X, Wen Y, Shi A, Zhang J, Wei Y, Wu X
Eur J Pharmacol 2020 Oct 15;885:173498. Epub 2020 Aug 22 doi: 10.1016/j.ejphar.2020.173498. PMID: 32841642
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561
Metabolism of vitamin D3 by cytochromes P450.
Sakaki T, Kagawa N, Yamamoto K, Inouye K
Front Biosci 2005 Jan 1;10:119-34. doi: 10.2741/1514. PMID: 15574355
Disturbances of vitamin D metabolism and action during clinical and experimental magnesium deficiency.
Carpenter TO
Magnes Res 1988 Dec;1(3-4):131-9. PMID: 3079418
Main endocrine modulators of vitamin D hydroxylases in human pathophysiology.
Caniggia A, Lorè F, di Cairano G, Nuti R
J Steroid Biochem 1987;27(4-6):815-24. doi: 10.1016/0022-4731(87)90154-3. PMID: 3320561

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