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PXD041248

PXD041248 is an original dataset announced via ProteomeXchange.

Dataset Summary
Titleimmune thrombocytopenia in sitosterolemia is driven by lipid disorder and not proteomic aberrations
DescriptionSitosterolemia 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.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_06:45:22.548.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterJessica Del Castillo
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Fusion
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-03-31 03:49:39ID requested
12024-06-15 23:45:33announced
22024-10-22 06:45:23announced2024-10-22: 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 affiliationSanquin Research
contact emails.meijer@sanquin.nl
lab head
Jessica Del Castillo
contact affiliationSanquin Research
contact emailj.del.castillo.az@gmail.com
dataset submitter
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Dataset FTP location
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PRIDE project URI
Repository Record List
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