Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

Griffiths, William; Asgari, Mohsen Ali; Yutuc, Eylan; Abdel-Khalik, Jonas; Crick, Peter J.; Morris, Andrew A; Jones, Simon A; Ghosh, Arunabha; Hart, Claire; Schöls, Ludger; Matysik, Silke; Laina, Ioanna; Pickrell, Owen; Moat, Stuart J; Wang, Yuqin

doi:10.1101/2025.06.23.25328695

Journal article 307 views

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

William Griffiths

, Mohsen Ali Asgari, Eylan Yutuc

, Jonas Abdel-Khalik

, Peter J. Crick

, Andrew A Morris, Simon A Jones, Arunabha Ghosh

, Claire Hart, Ludger Schöls, Silke Matysik

, Ioanna Laina, Owen Pickrell

, Stuart J Moat

, Yuqin Wang

medRxiv

Swansea University Authors: William Griffiths , Mohsen Ali Asgari, Eylan Yutuc , Owen Pickrell , Yuqin Wang

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DOI (Published version): 10.1101/2025.06.23.25328695

Abstract

Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can betaken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsa...

Full description

Published in:	medRxiv
Published:	Cold Spring Harbor Laboratory
URI:	https://cronfa.swan.ac.uk/Record/cronfa69955

first_indexed	2025-07-14T09:08:11Z
last_indexed	2025-11-08T06:14:39Z
id	cronfa69955
recordtype	SURis
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Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsand can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multipledisorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirma diagnosis, resulting in a delay in treatment, particularly in the case of unknown genetic variants.Here, we present the first version of a mass spectrometry sterolomic library to aid the diagnosis ofmanifold cholesterol-related inherited disorders of metabolism. The library was generated usingtechnology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent andutilising electrospray ionisation mass spectrometry in the positive and negative modes.</abstract><type>Journal Article</type><journal>medRxiv</journal><volume/><journalNumber/><paginationStart/><paginationEnd/><publisher>Cold Spring Harbor Laboratory</publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint/><issnElectronic/><keywords/><publishedDay>0</publishedDay><publishedMonth>0</publishedMonth><publishedYear>0</publishedYear><publishedDate>0001-01-01</publishedDate><doi>10.1101/2025.06.23.25328695</doi><url/><notes>Preprint article before certification by peer review.</notes><college>COLLEGE NANME</college><department>Medical School</department><CollegeCode>COLLEGE CODE</CollegeCode><DepartmentCode>MEDS</DepartmentCode><institution>Swansea University</institution><apcterm>Not Required</apcterm><funders>MRC, BBSRC, Welsh Government through Health and Care Research Wales “BRAIN Unit” Infrastructure Award (Grant no: UA05) and the Advanced NeuroTherapies Centre; and the European Union through European Structural Funds (ESF), as part of the Welsh Government funded Academic Expertise for Business project.</funders><projectreference>MR/X012387/1, MR/Y008057/1, BB/S019588/1, BB/I012354/1, BB/L001942/1</projectreference><lastEdited>2025-11-07T10:31:38.7809677</lastEdited><Created>2025-07-14T09:51:34.6625296</Created><path><level id="1">Faculty of Medicine, Health and Life Sciences</level><level id="2">Swansea University Medical School - Biomedical Science</level></path><authors><author><firstname>William</firstname><surname>Griffiths</surname><orcid>0000-0002-4129-6616</orcid><order>1</order></author><author><firstname>Mohsen</firstname><surname>Ali Asgari</surname><order>2</order></author><author><firstname>Eylan</firstname><surname>Yutuc</surname><orcid>0000-0001-9971-1950</orcid><order>3</order></author><author><firstname>Jonas</firstname><surname>Abdel-Khalik</surname><orcid>0000-0002-6356-3682</orcid><order>4</order></author><author><firstname>Peter J.</firstname><surname>Crick</surname><orcid>0000-0002-3282-1239</orcid><order>5</order></author><author><firstname>Andrew A</firstname><surname>Morris</surname><order>6</order></author><author><firstname>Simon A</firstname><surname>Jones</surname><order>7</order></author><author><firstname>Arunabha</firstname><surname>Ghosh</surname><orcid>0000-0002-8202-8693</orcid><order>8</order></author><author><firstname>Claire</firstname><surname>Hart</surname><order>9</order></author><author><firstname>Ludger</firstname><surname>Schöls</surname><order>10</order></author><author><firstname>Silke</firstname><surname>Matysik</surname><orcid>0000-0001-8590-8154</orcid><order>11</order></author><author><firstname>Ioanna</firstname><surname>Laina</surname><order>12</order></author><author><firstname>Owen</firstname><surname>Pickrell</surname><orcid>0000-0003-4396-5657</orcid><order>13</order></author><author><firstname>Stuart J</firstname><surname>Moat</surname><orcid>0000-0002-3592-2254</orcid><order>14</order></author><author><firstname>Yuqin</firstname><surname>Wang</surname><orcid>0000-0002-3063-3066</orcid><order>15</order></author></authors><documents/><OutputDurs/></rfc1807>
spelling	2025-11-07T10:31:38.7809677 v2 69955 2025-07-14 Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths true false 58bf75dabf1a8c8d58eda61b305d3cfd Mohsen Ali Asgari Mohsen Ali Asgari true false 99332f073ce913a9b7d8b6441b17516d 0000-0001-9971-1950 Eylan Yutuc Eylan Yutuc true false 1c3044b5ff7a6552ff5e8c9e3901c807 0000-0003-4396-5657 Owen Pickrell Owen Pickrell true false c92729b58622f9fdf6a0e7d8f4ce5081 0000-0002-3063-3066 Yuqin Wang Yuqin Wang true false 2025-07-14 MEDS Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can betaken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsand can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multipledisorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirma diagnosis, resulting in a delay in treatment, particularly in the case of unknown genetic variants.Here, we present the first version of a mass spectrometry sterolomic library to aid the diagnosis ofmanifold cholesterol-related inherited disorders of metabolism. The library was generated usingtechnology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent andutilising electrospray ionisation mass spectrometry in the positive and negative modes. Journal Article medRxiv Cold Spring Harbor Laboratory 0 0 0 0001-01-01 10.1101/2025.06.23.25328695 Preprint article before certification by peer review. COLLEGE NANME Medical School COLLEGE CODE MEDS Swansea University Not Required MRC, BBSRC, Welsh Government through Health and Care Research Wales “BRAIN Unit” Infrastructure Award (Grant no: UA05) and the Advanced NeuroTherapies Centre; and the European Union through European Structural Funds (ESF), as part of the Welsh Government funded Academic Expertise for Business project. MR/X012387/1, MR/Y008057/1, BB/S019588/1, BB/I012354/1, BB/L001942/1 2025-11-07T10:31:38.7809677 2025-07-14T09:51:34.6625296 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Biomedical Science William Griffiths 0000-0002-4129-6616 1 Mohsen Ali Asgari 2 Eylan Yutuc 0000-0001-9971-1950 3 Jonas Abdel-Khalik 0000-0002-6356-3682 4 Peter J. Crick 0000-0002-3282-1239 5 Andrew A Morris 6 Simon A Jones 7 Arunabha Ghosh 0000-0002-8202-8693 8 Claire Hart 9 Ludger Schöls 10 Silke Matysik 0000-0001-8590-8154 11 Ioanna Laina 12 Owen Pickrell 0000-0003-4396-5657 13 Stuart J Moat 0000-0002-3592-2254 14 Yuqin Wang 0000-0002-3063-3066 15
title	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
spellingShingle	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases William Griffiths Mohsen Ali Asgari Eylan Yutuc Owen Pickrell Yuqin Wang
title_short	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
title_full	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
title_fullStr	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
title_full_unstemmed	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
title_sort	Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
author_id_str_mv	3316b1d1b524be1831790933eed1c26e 58bf75dabf1a8c8d58eda61b305d3cfd 99332f073ce913a9b7d8b6441b17516d 1c3044b5ff7a6552ff5e8c9e3901c807 c92729b58622f9fdf6a0e7d8f4ce5081
author_id_fullname_str_mv	3316b1d1b524be1831790933eed1c26e_*_William Griffiths 58bf75dabf1a8c8d58eda61b305d3cfd__Mohsen Ali Asgari 99332f073ce913a9b7d8b6441b17516d__Eylan Yutuc 1c3044b5ff7a6552ff5e8c9e3901c807__Owen Pickrell c92729b58622f9fdf6a0e7d8f4ce5081_**_Yuqin Wang
author	William Griffiths Mohsen Ali Asgari Eylan Yutuc Owen Pickrell Yuqin Wang
author2	William Griffiths Mohsen Ali Asgari Eylan Yutuc Jonas Abdel-Khalik Peter J. Crick Andrew A Morris Simon A Jones Arunabha Ghosh Claire Hart Ludger Schöls Silke Matysik Ioanna Laina Owen Pickrell Stuart J Moat Yuqin Wang
format	Journal article
container_title	medRxiv
institution	Swansea University
doi_str_mv	10.1101/2025.06.23.25328695
publisher	Cold Spring Harbor Laboratory
college_str	Faculty of Medicine, Health and Life Sciences
hierarchytype
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
document_store_str	0
active_str	0
description	Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can betaken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead todisease, often with neurological signs. However, such disorders tend to have non-specific symptomsand can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multipledisorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirma diagnosis, resulting in a delay in treatment, particularly in the case of unknown genetic variants.Here, we present the first version of a mass spectrometry sterolomic library to aid the diagnosis ofmanifold cholesterol-related inherited disorders of metabolism. The library was generated usingtechnology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent andutilising electrospray ionisation mass spectrometry in the positive and negative modes.
published_date	0001-01-01T05:29:34Z
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score	11.444314

Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases

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