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Role of Bile Acid Pathway Intermediates in Pathology of CTX

William Griffiths Orcid Logo, Eylan Yutuc Orcid Logo, Mohsen Ali Asgari, Yuqin Wang Orcid Logo

Swansea University Authors: William Griffiths Orcid Logo, Eylan Yutuc Orcid Logo, Mohsen Ali Asgari, Yuqin Wang Orcid Logo

DOI (Published version): 10.5281/zenodo.10050199

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: 2023
URI: https://cronfa.swan.ac.uk/Record/cronfa64910
first_indexed 2023-11-06T09:08:08Z
last_indexed 2024-11-25T14:14:59Z
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recordtype SURis
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spelling 2024-03-13T15:50:31.4851444 v2 64910 2023-11-02 Role of Bile Acid Pathway Intermediates in Pathology of 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 2023-11-02 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 relative importance of accumulation of pathway intermediates and missing metabolites to the pathology of CTX. Other 29 10 2023 2023-10-29 10.5281/zenodo.10050199 Pre-print COLLEGE NANME Medical School COLLEGE CODE MEDS Swansea University Not Required UKRI BB/I001735/1, BB/S019588/1, MR/X012387/1, MR/Y008057/1, BB/L001942/1 2024-03-13T15:50:31.4851444 2023-11-02T16:43:43.8592214 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 64910__28926__648e0330059e44f698db4ad146ab87d2.pdf 231029_Griffiths_CTX_with_Figures (1).pdf 2023-11-06T09:07:33.0563410 Output 653160 application/pdf Other true false
title Role of Bile Acid Pathway Intermediates in Pathology of CTX
spellingShingle Role of Bile Acid Pathway Intermediates in Pathology of CTX
William Griffiths
Eylan Yutuc
Mohsen Ali Asgari
Yuqin Wang
title_short Role of Bile Acid Pathway Intermediates in Pathology of CTX
title_full Role of Bile Acid Pathway Intermediates in Pathology of CTX
title_fullStr Role of Bile Acid Pathway Intermediates in Pathology of CTX
title_full_unstemmed Role of Bile Acid Pathway Intermediates in Pathology of CTX
title_sort Role of Bile Acid Pathway Intermediates in Pathology of 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 Other
publishDate 2023
institution Swansea University
doi_str_mv 10.5281/zenodo.10050199
college_str Faculty of Medicine, Health and Life Sciences
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hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
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 relative importance of accumulation of pathway intermediates and missing metabolites to the pathology of CTX.
published_date 2023-10-29T20:26:17Z
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