{"title":"Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns","authors":"Gülşah Kavrul Kayaalp , Desiré Casares-Marfil , Sezgin Şahin , Özgür Kasapçopur , Betül Sözeri , Nuray Aktay Ayaz , Amr H. Sawalha","doi":"10.1016/j.clim.2024.110310","DOIUrl":null,"url":null,"abstract":"<div><p>Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.</p></div>","PeriodicalId":10392,"journal":{"name":"Clinical immunology","volume":"266 ","pages":"Article 110310"},"PeriodicalIF":4.5000,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521661624004194/pdfft?md5=22bca384a0e1a66de9ab61fc2624456e&pid=1-s2.0-S1521661624004194-main.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical immunology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521661624004194","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.
系统性红斑狼疮(SLE 或狼疮)是一种复杂的自身免疫性疾病,可影响多个器官。虽然人们对该病的确切病因尚不完全清楚,但有一种说法认为,X 染色体的剂量对狼疮的发病机制有影响。在此,我们报告了一例罕见的女性患者,她被诊断为马赛克特纳综合征,随后又出现了幼年型系统性红斑狼疮。我们对该患者的DNA甲基化模式进行了分析,并将其与年龄匹配的女性系统性红斑狼疮对照组进行了比较,结果发现干扰素调控基因的甲基化水平较高,而这些基因以前曾被证明在系统性红斑狼疮中甲基化水平较低。这些数据提供了 X 染色体基因剂量效应与狼疮定义表观遗传型之间的潜在联系。我们推测,干扰素调控基因的去甲基化减弱可能提供了一种保护作用,从而解释了特纳综合征中系统性红斑狼疮的罕见性。
期刊介绍:
Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.