Journal article 705 views
Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases
Mohsen Ali Asgari,
Eylan Yutuc 
,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Richard Curnock,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Evan Reid ,
Thomas Warner ,
Belen Gonzalez-Herrero,
Rajith De Silva,
Owen Pickrell ,
Stuart J Moat ,
William Griffiths ,
Yuqin Wang
,
Jonas Abdel-Khalik ,
Peter J. Crick ,
Andrew A Morris,
Simon A Jones,
Arunabha Ghosh ,
Richard Curnock,
Claire Hart,
Ludger Schöls,
Silke Matysik ,
Ioanna Laina,
Evan Reid ,
Thomas Warner ,
Belen Gonzalez-Herrero,
Rajith De Silva,
Owen Pickrell ,
Stuart J Moat ,
William Griffiths ,
Yuqin Wang
medRxiv
Swansea University Authors:
Mohsen Ali Asgari, Eylan Yutuc , Owen Pickrell , William Griffiths , Yuqin Wang
Full text not available from this repository: check for access using links below.
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 be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptom...
| Published in: | medRxiv |
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| Published: |
openRxiv
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa69955 |
| first_indexed |
2025-07-14T09:08:11Z |
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| last_indexed |
2026-06-27T04:59:29Z |
| id |
cronfa69955 |
| recordtype |
SURis |
| fullrecord |
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Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptoms and can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multiple disorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirm a 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 of manifold cholesterol-related inherited disorders of metabolism. The library was generated using technology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent and utilising electrospray ionisation mass spectrometry in the positive and negative modes. The library includes data for 13 autosomal recessive disorders and predicted data for a further 8 disorders.</abstract><type>Journal Article</type><journal>medRxiv</journal><volume/><journalNumber/><paginationStart/><paginationEnd/><publisher>openRxiv</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>2026-06-26T12:28:41.8649645</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>Mohsen</firstname><surname>Ali Asgari</surname><orcid/><order>1</order></author><author><firstname>Eylan</firstname><surname>Yutuc</surname><orcid>0000-0001-9971-1950</orcid><order>2</order></author><author><firstname>Jonas</firstname><surname>Abdel-Khalik</surname><orcid>0000-0002-6356-3682</orcid><order>3</order></author><author><firstname>Peter J.</firstname><surname>Crick</surname><orcid>0000-0002-3282-1239</orcid><order>4</order></author><author><firstname>Andrew A</firstname><surname>Morris</surname><order>5</order></author><author><firstname>Simon A</firstname><surname>Jones</surname><order>6</order></author><author><firstname>Arunabha</firstname><surname>Ghosh</surname><orcid>0000-0002-8202-8693</orcid><order>7</order></author><author><firstname>Richard</firstname><surname>Curnock</surname><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>Evan</firstname><surname>Reid</surname><orcid>0000-0003-1623-7304</orcid><order>13</order></author><author><firstname>Thomas</firstname><surname>Warner</surname><orcid>0000-0001-6195-6995</orcid><order>14</order></author><author><firstname>Belen</firstname><surname>Gonzalez-Herrero</surname><order>15</order></author><author><firstname>Rajith De</firstname><surname>Silva</surname><order>16</order></author><author><firstname>Owen</firstname><surname>Pickrell</surname><orcid>0000-0003-4396-5657</orcid><order>17</order></author><author><firstname>Stuart J</firstname><surname>Moat</surname><orcid>0000-0002-3592-2254</orcid><order>18</order></author><author><firstname>William</firstname><surname>Griffiths</surname><orcid>0000-0002-4129-6616</orcid><order>19</order></author><author><firstname>Yuqin</firstname><surname>Wang</surname><orcid>0000-0002-3063-3066</orcid><order>20</order></author></authors><documents/><OutputDurs/></rfc1807> |
| spelling |
2026-06-26T12:28:41.8649645 v2 69955 2025-07-14 Rare Cholesterol Related Disorders – A Sterolomic Library for Diagnosis and Monitoring of Diseases 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 3316b1d1b524be1831790933eed1c26e 0000-0002-4129-6616 William Griffiths William Griffiths 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 be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptoms and can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multiple disorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirm a 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 of manifold cholesterol-related inherited disorders of metabolism. The library was generated using technology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent and utilising electrospray ionisation mass spectrometry in the positive and negative modes. The library includes data for 13 autosomal recessive disorders and predicted data for a further 8 disorders. Journal Article medRxiv openRxiv 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 2026-06-26T12:28:41.8649645 2025-07-14T09:51:34.6625296 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Biomedical Science Mohsen Ali Asgari 1 Eylan Yutuc 0000-0001-9971-1950 2 Jonas Abdel-Khalik 0000-0002-6356-3682 3 Peter J. Crick 0000-0002-3282-1239 4 Andrew A Morris 5 Simon A Jones 6 Arunabha Ghosh 0000-0002-8202-8693 7 Richard Curnock 8 Claire Hart 9 Ludger Schöls 10 Silke Matysik 0000-0001-8590-8154 11 Ioanna Laina 12 Evan Reid 0000-0003-1623-7304 13 Thomas Warner 0000-0001-6195-6995 14 Belen Gonzalez-Herrero 15 Rajith De Silva 16 Owen Pickrell 0000-0003-4396-5657 17 Stuart J Moat 0000-0002-3592-2254 18 William Griffiths 0000-0002-4129-6616 19 Yuqin Wang 0000-0002-3063-3066 20 |
| 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 Mohsen Ali Asgari Eylan Yutuc Owen Pickrell William Griffiths 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 |
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58bf75dabf1a8c8d58eda61b305d3cfd 99332f073ce913a9b7d8b6441b17516d 1c3044b5ff7a6552ff5e8c9e3901c807 3316b1d1b524be1831790933eed1c26e c92729b58622f9fdf6a0e7d8f4ce5081 |
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58bf75dabf1a8c8d58eda61b305d3cfd_***_Mohsen Ali Asgari 99332f073ce913a9b7d8b6441b17516d_***_Eylan Yutuc 1c3044b5ff7a6552ff5e8c9e3901c807_***_Owen Pickrell 3316b1d1b524be1831790933eed1c26e_***_William Griffiths c92729b58622f9fdf6a0e7d8f4ce5081_***_Yuqin Wang |
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Mohsen Ali Asgari Eylan Yutuc Owen Pickrell William Griffiths Yuqin Wang |
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Mohsen Ali Asgari Eylan Yutuc Jonas Abdel-Khalik Peter J. Crick Andrew A Morris Simon A Jones Arunabha Ghosh Richard Curnock Claire Hart Ludger Schöls Silke Matysik Ioanna Laina Evan Reid Thomas Warner Belen Gonzalez-Herrero Rajith De Silva Owen Pickrell Stuart J Moat William Griffiths Yuqin Wang |
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medRxiv |
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Swansea University |
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10.1101/2025.06.23.25328695 |
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openRxiv |
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Cholesterol is an essential molecule in all animals, it can be made by de novo synthesis and can be taken up from the diet. Inherited disorders of cholesterol synthesis, metabolism and transport lead to disease, often with neurological signs. However, such disorders tend to have non-specific symptoms and can be difficult to diagnose. In addition, there is no single diagnostic test applicable to multiple disorders of cholesterol synthesis, metabolism and transport which can be used to suggest or confirm a 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 of manifold cholesterol-related inherited disorders of metabolism. The library was generated using technology based on simple derivatisation chemistry exploiting the Girard P hydrazine reagent and utilising electrospray ionisation mass spectrometry in the positive and negative modes. The library includes data for 13 autosomal recessive disorders and predicted data for a further 8 disorders. |
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0001-01-01T05:37:03Z |
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11.110217 |