PXD041248 is an
original dataset announced via ProteomeXchange.
Dataset Summary
Title | immune thrombocytopenia in sitosterolemia is driven by lipid disorder and not proteomic aberrations |
Description | Sitosterolemia is a rare autosomal-recessive genetic disorder in which patients develop hypercholesterolemia, and abnormal hematologic and/or liver function tests. In this disease, dysfunction of either ABCG5 or ABCG8 results in intestinal hyperabsorption of all sterols, including cholesterol and more specifically plant sterols or xenosterols, as well as in the impaired ability to excrete xenosterols into the bile. It remains unknown how and why some patients develop hematologic abnormalities. Only a few unrelated patients with hematologic abnormalities at the time of diagnosis have been reported. Here, we report on two unrelated pedigrees who were believed to have chronic immune thrombocytopenia as most prominent feature. Both consanguineous families showed recessive gene variants in ABCG5, that were associated with disease by in-silico protein structure analysis as well as clinical segregation. Thrombopoietin levels and megakaryocyte numbers in bone marrow were normal. Metabolic analysis confirmed the presence of strongly elevated plasma levels of xenosterols. Potential platelet proteomic aberrations were longitudinally assessed following dietary restrictions combined with the administration of the sterol absorption inhibitor ezetimibe. No significant effects on platelet protein content before and after onset of treatment were demonstrated. In sum, our data suggest a defect in proplatelet release in our patients with sitosterolemia. |
HostingRepository | PRIDE |
AnnounceDate | 2024-10-22 |
AnnouncementXML | Submission_2024-10-22_06:45:22.548.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Jessica Del Castillo |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | acetylated residue; iodoacetamide derivatized residue |
Instrument | Orbitrap Fusion |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2023-03-31 03:49:39 | ID requested | |
1 | 2024-06-15 23:45:33 | announced | |
⏵ 2 | 2024-10-22 06:45:23 | announced | 2024-10-22: Updated project metadata. |
Publication List
Del Castillo J, Tool ATJ, van Leeuwen K, van Alphen FPJ, Brands MM, Suijker MH, Meijer AB, Hoogendijk AJ, Kuijpers TW, Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations. Blood Adv, 8(10):2466-2477(2024) [pubmed] |
10.1182/bloodadvances.2023012018; |
Keyword List
submitter keyword: sitosterolemia,platelet proteomics |
Contact List
Sander Meijer |
contact affiliation | Sanquin Research |
contact email | s.meijer@sanquin.nl |
lab head | |
Jessica Del Castillo |
contact affiliation | Sanquin Research |
contact email | j.del.castillo.az@gmail.com |
dataset submitter | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD041248
- Label: PRIDE project
- Name: immune thrombocytopenia in sitosterolemia is driven by lipid disorder and not proteomic aberrations