{"title":"动脉粥样硬化性颈动脉疾病患者内皮细胞中的 JAK-2 V617F 基因突变","authors":"Reyhan Diz-Küçükkaya, Taner İyigün, Özgür Albayrak, Candan Eker, Tuba Günel","doi":"10.4274/tjh.galenos.2024.2024.0161","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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, <i>JAK2</i> gene variants were examined in patients with atherosclerotic carotid disease and without any hematological malignancies.</p><p><strong>Materials and methods: </strong>Ten consecutive patients (8 men and 2 women) with symptomatic atherosclerotic carotid stenosis were included in this study. ECs (CD31<sup>+</sup>CD45<sup>-</sup>) were separated from tissue samples taken by carotid endarterectomy. <i>JAK2</i> variants were examined in ECs, peripheral blood mononuclear cells, and oral epithelial cells of the patients with next-generation sequencing.</p><p><strong>Results: </strong>The median age of the patients was 74 (range: 58-80) years and the median body mass index value was 24.44 (range: 18.42-30.85) kg/m<sup>2</sup>. Smoking history was present in 50%, hypertension in 80%, diabetes in 70%, and ischemic heart disease in 70% of the cases. The <i>JAK2</i>V617F mutation was detected in the peripheral blood mononuclear cells of 3 of the 10 patients, and 2 patients also had the <i>JAK2</i>V617F mutation in their ECs. The <i>JAK2</i>V617F mutation was not found in the oral epithelial cells of any of the patients.</p><p><strong>Conclusion: </strong>In this study, for the first time in the literature, we showed that the <i>JAK2</i>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 <i>JAK2</i>V617F mutation in ECs may help open a new avenue for treating atherosclerosis.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":" ","pages":"167-174"},"PeriodicalIF":1.5000,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11589362/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>JAK2</i>V617F Mutation in Endothelial Cells of Patients with Atherosclerotic Carotid Disease\",\"authors\":\"Reyhan Diz-Küçükkaya, Taner İyigün, Özgür Albayrak, Candan Eker, Tuba Günel\",\"doi\":\"10.4274/tjh.galenos.2024.2024.0161\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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, <i>JAK2</i> gene variants were examined in patients with atherosclerotic carotid disease and without any hematological malignancies.</p><p><strong>Materials and methods: </strong>Ten consecutive patients (8 men and 2 women) with symptomatic atherosclerotic carotid stenosis were included in this study. ECs (CD31<sup>+</sup>CD45<sup>-</sup>) were separated from tissue samples taken by carotid endarterectomy. <i>JAK2</i> variants were examined in ECs, peripheral blood mononuclear cells, and oral epithelial cells of the patients with next-generation sequencing.</p><p><strong>Results: </strong>The median age of the patients was 74 (range: 58-80) years and the median body mass index value was 24.44 (range: 18.42-30.85) kg/m<sup>2</sup>. Smoking history was present in 50%, hypertension in 80%, diabetes in 70%, and ischemic heart disease in 70% of the cases. The <i>JAK2</i>V617F mutation was detected in the peripheral blood mononuclear cells of 3 of the 10 patients, and 2 patients also had the <i>JAK2</i>V617F mutation in their ECs. The <i>JAK2</i>V617F mutation was not found in the oral epithelial cells of any of the patients.</p><p><strong>Conclusion: </strong>In this study, for the first time in the literature, we showed that the <i>JAK2</i>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 <i>JAK2</i>V617F mutation in ECs may help open a new avenue for treating atherosclerosis.</p>\",\"PeriodicalId\":23362,\"journal\":{\"name\":\"Turkish Journal of Hematology\",\"volume\":\" \",\"pages\":\"167-174\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-08-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11589362/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Turkish Journal of Hematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4274/tjh.galenos.2024.2024.0161\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/27 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkish Journal of Hematology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4274/tjh.galenos.2024.2024.0161","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/27 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
JAK2V617F Mutation in Endothelial Cells of Patients with Atherosclerotic Carotid Disease
Objective: 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-) were separated from tissue samples taken by carotid endarterectomy. 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: 18.42-30.85) kg/m2. Smoking history was present in 50%, hypertension in 80%, diabetes in 70%, and ischemic heart disease in 70% of the cases. The JAK2V617F mutation was detected in the peripheral blood mononuclear cells of 3 of the 10 patients, and 2 patients also had the JAK2V617F mutation in their ECs. The JAK2V617F 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 JAK2V617F 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 JAK2V617F mutation in ECs may help open a new avenue for treating atherosclerosis.
期刊介绍：
The Turkish Journal of Hematology is published quarterly (March, June, September, and December) by the Turkish Society of Hematology. It is an independent, non-profit peer-reviewed international English-language periodical encompassing subjects relevant to hematology.
The Editorial Board of The Turkish Journal of Hematology adheres to the principles of the World Association of Medical Editors (WAME), International Council of Medical Journal Editors (ICMJE), Committee on Publication Ethics (COPE), Consolidated Standards of Reporting Trials (CONSORT) and Strengthening the Reporting of Observational Studies in Epidemiology (STROBE).
The aim of The Turkish Journal of Hematology is to publish original hematological research of the highest scientific quality and clinical relevance. Additionally, educational material, reviews on basic developments, editorial short notes, images in hematology, and letters from hematology specialists and clinicians covering their experience and comments on hematology and related medical fields as well as social subjects are published. As of December 2015, The Turkish Journal of Hematology does not accept case reports. Important new findings or data about interesting hematological cases may be submitted as a brief report.
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