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Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
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Eylan Yutuc ,
Mohsen Ali Asgari,
Yuqin Wang
Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder, Pages: 144 - 155
Swansea University Authors:
William Griffiths , Eylan Yutuc , Mohsen Ali Asgari, Yuqin Wang
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DOI (Published version): 10.1007/978-3-031-92526-9_12
Abstract
A deficiency in the enzyme sterol 27-hydroxylase (CYP27A1) leads to the autosomal recessive disorder cerebrotendinous xanthomatosis (CTX). CYP27A1 catalyses the first steps of the acidic pathway of bile acid biosynthesis. Most cells express CYP27A1, and a deficiency in this enzyme results in the act...
| Published in: | Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder |
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| ISBN: | 978-3-031-92525-2 978-3-031-92526-9 |
| Published: |
Cham
Springer
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa69494 |
| Abstract: |
A deficiency in the enzyme sterol 27-hydroxylase (CYP27A1) leads to the autosomal recessive disorder cerebrotendinous xanthomatosis (CTX). CYP27A1 catalyses the first steps of the acidic pathway of bile acid biosynthesis. Most cells express CYP27A1, and a deficiency in this enzyme results in the activation of shunt pathways to help remove excess cholesterol. CYP27A1 also appears in the middle of the neutral pathway of bile acid biosynthesis and its deficiency results in accumulation of up-stream pathway intermediates. Here we describe methods for the simultaneous analysis of almost all metabolites from cholesterol to bile acids in a single assay and discuss the potential importance of accumulation of pathway intermediates and missing metabolites to the pathology of CTX. |
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| Keywords: |
CTX; Bile acids; Oxysterols; Cholestenoic acids; Mass spectrometry; Derivatisation; 27-hydroxycholesterol; 7α,12α-dihydroxycholestenone; 7α-hydroxy3-oxocholestenoic acid |
| College: |
Faculty of Medicine, Health and Life Sciences |
| Funders: |
This work was supported by funding from the UKRI (grant numbers BB/I001735/1, BB/S019588/1,
MR/X012387/1 and MR/Y008057/1 to WJG, BB/L001942/1 to YW), and the European Union, through
European Structural Funds (ESF), as part of the Welsh Government funded Academic Expertise for
Business project (to WJG and YW). |
| Start Page: |
144 |
| End Page: |
155 |