Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)

Griffiths, William; Yutuc, Eylan; Asgari, Mohsen Ali; Wang, Yuqin

doi:10.1007/978-3-031-92526-9_12

Book chapter 491 views 21 downloads

Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)

William Griffiths

, 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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Author accepted manuscript document released under the terms of a Creative Commons CC-BY licence using the Swansea University Research Publications Policy (rights retention).
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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...

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Published in:	Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder
ISBN:	978-3-031-92525-2 978-3-031-92526-9
Published:	Cham Springer
URI:	https://cronfa.swan.ac.uk/Record/cronfa69494

first_indexed	2025-05-12T09:21:16Z
last_indexed	2025-11-07T05:03:09Z
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spelling	2025-11-05T12:01:00.9580626 v2 69494 2025-05-12 Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX) 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths true false 99332f073ce913a9b7d8b6441b17516d 0000-0001-9971-1950 Eylan Yutuc Eylan Yutuc true false 58bf75dabf1a8c8d58eda61b305d3cfd Mohsen Ali Asgari Mohsen Ali Asgari true false c92729b58622f9fdf6a0e7d8f4ce5081 0000-0002-3063-3066 Yuqin Wang Yuqin Wang true false 2025-05-12 MEDS 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. Book chapter Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder 144 155 Springer Cham 978-3-031-92525-2 978-3-031-92526-9 CTX; Bile acids; Oxysterols; Cholestenoic acids; Mass spectrometry; Derivatisation; 27-hydroxycholesterol; 7α,12α-dihydroxycholestenone; 7α-hydroxy3-oxocholestenoic acid 0 0 0 0001-01-01 10.1007/978-3-031-92526-9_12 COLLEGE NANME Medical School COLLEGE CODE MEDS Swansea University Not Required 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). 2025-11-05T12:01:00.9580626 2025-05-12T09:59:56.5597403 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Biomedical Science William Griffiths 0000-0002-4129-6616 1 Eylan Yutuc 0000-0001-9971-1950 2 Mohsen Ali Asgari 3 Yuqin Wang 0000-0002-3063-3066 4 69494__34597__fc06e318e2714b9388a6838479989c74.pdf 69494.AAM.pdf 2025-06-26T14:54:45.0858687 Output 218296 application/pdf Accepted Manuscript true Author accepted manuscript document released under the terms of a Creative Commons CC-BY licence using the Swansea University Research Publications Policy (rights retention). true eng https://creativecommons.org/licenses/by/4.0/deed.en
title	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
spellingShingle	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX) William Griffiths Eylan Yutuc Mohsen Ali Asgari Yuqin Wang
title_short	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
title_full	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
title_fullStr	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
title_full_unstemmed	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
title_sort	Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)
author_id_str_mv	3316b1d1b524be1831790933eed1c26e 99332f073ce913a9b7d8b6441b17516d 58bf75dabf1a8c8d58eda61b305d3cfd c92729b58622f9fdf6a0e7d8f4ce5081
author_id_fullname_str_mv	3316b1d1b524be1831790933eed1c26e_*_William Griffiths 99332f073ce913a9b7d8b6441b17516d__Eylan Yutuc 58bf75dabf1a8c8d58eda61b305d3cfd__Mohsen Ali Asgari c92729b58622f9fdf6a0e7d8f4ce5081_*_Yuqin Wang
author	William Griffiths Eylan Yutuc Mohsen Ali Asgari Yuqin Wang
author2	William Griffiths Eylan Yutuc Mohsen Ali Asgari Yuqin Wang
format	Book chapter
container_title	Cerebrotendinous Xanthomatosis: A Treatable Rare Neurometabolic Disorder
container_start_page	144
institution	Swansea University
isbn	978-3-031-92525-2 978-3-031-92526-9
doi_str_mv	10.1007/978-3-031-92526-9_12
publisher	Springer
college_str	Faculty of Medicine, Health and Life Sciences
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department_str	Swansea University Medical School - Biomedical Science{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Biomedical Science
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description	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.
published_date	0001-01-01T05:28:20Z
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Role of Bile Acid Pathway Intermediates in Pathology of Cerebrotendinous Xanthomatosis (CTX)

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