JAK2 V617F Mutation in Endothelial Cells of Patients with Atherosclerotic Carotid Disease

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dc.authorid0000-0001-8760-1439
dc.contributor.authorDiz-Kucukkaya, Reyhan
dc.contributor.authorIyigun, Taner
dc.contributor.authorAlbayrak, Ozgur
dc.contributor.authorEker, Candan
dc.contributor.authorGunel, Tuba
dc.date.accessioned2026-04-04T18:56:09Z
dc.date.available2026-04-04T18:56:09Z
dc.date.issued2024
dc.departmentİstanbul Bilgi Üniversitesi
dc.description.abstractObjective: It has been shown that clonal mutations occur in hematopoietic stem cells with advancing age and increase the risk of death due to atherosclerotic vascular diseases, similarly to myeloproliferative neoplasms. Endothelial cells (ECs) and hematopoietic stem cells develop from common stem cells called hemangioblasts in the early embryonic period. However, the presence of hemangioblasts in the postnatal period is controversial. In this study, JAK2 gene variants were examined in patients with atherosclerotic carotid disease and without any hematological malignancies. Materials and Methods: Ten consecutive patients (8 men and 2 women) with symptomatic atherosclerotic carotid stenosis were included in this study. ECs (CD31+CD45-) + CD45- ) were separated from tissue samples taken by carotid endarterectomy.JAK2variants were JAK2 variants were examined in ECs, peripheral blood mononuclear cells, and oral epithelial cells of the patients with next-generation sequencing. Results: The median age of the patients was 74 (range: 58-80) years and the median body mass index value was 24.44 (range: 18.4230.85) kg/m2. 2 . Smoking history was present in 50%, hypertension in 80%, diabetes in 70%, and ischemic heart disease in 70% of the cases. The JAK2 V617F mutation was detected in the peripheral blood mononuclear cells of 3 of the 10 patients, and 2 patients also had the JAK2 V617F mutation in their ECs. The JAK2 V617F mutation was not found in the oral epithelial cells of any of the patients. Conclusion: In this study, for the first time in the literature, we showed that the JAK2 V617F mutation was found somatically in both peripheral blood cells and ECs in patients with atherosclerosis. This finding may support that ECs and hematopoietic cells originate from a common clone or that somatic mutations can be transmitted to ECs by other mechanisms. Examining the molecular and functional changes caused by the JAK2 V617F mutation in ECs may help open a new avenue for treating atherosclerosis.
dc.description.sponsorshipScientific Research Projects Coordination Unit of Idot;stanbul University [37779]; Turkish Society of Hematology [TJH 2021-02]
dc.description.sponsorshipThis study was funded by the Scientific Research Projects Coordination Unit of & Idot;stanbul University (project number: 37779) . It was also supported by the Turkish Society of Hematology (project number: TJH 2021-02) .
dc.identifier.doi10.4274/tjh.galenos.2024.2024.0161
dc.identifier.doi10.4274/tjh.galenos.2024.2024.0161
dc.identifier.endpage174
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue3
dc.identifier.pmid38801025
dc.identifier.scopus2-s2.0-85202791337
dc.identifier.scopusqualityQ3
dc.identifier.startpage167
dc.identifier.trdizinid1315678
dc.identifier.urihttps://doi.org/10.4274/tjh.galenos.2024.2024.0161
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1315678
dc.identifier.urihttps://hdl.handle.net/11411/10717
dc.identifier.volume41
dc.identifier.wosWOS:001301331900005
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publ House
dc.relation.ispartofTurkish Journal of Hematology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20260402
dc.snmzKA_Scopus_20260402
dc.subjectJak2 V617F Mutation
dc.subjectClonal Hematopoiesis
dc.subjectAtherosclerosis
dc.subjectMyeloproliferative Neoplasms
dc.titleJAK2 V617F Mutation in Endothelial Cells of Patients with Atherosclerotic Carotid Disease
dc.typeArticle

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