scholarly journals Methylation Status of Alu and LINE-1 Interspersed Repetitive Sequences in Behcet’s Disease Patients

2016 ◽  
Vol 2016 ◽  
pp. 1-9 ◽  
Author(s):  
Şahru Yüksel ◽  
Selma Ozbek Kucukazman ◽  
Gülten Sungur Karataş ◽  
Mehmet Akif Ozturk ◽  
Sasiprapa Prombhul ◽  
...  

Behcet’s Disease (BD) is a multisystem chronic inflammatory disease. The pathology is believed to involve both genetic susceptibility and environmental factors. Hypomethylation leading to activation of interspersed repetitive sequences (IRSs) such as LINE-1 and Alu contributes to the pathologies of autoimmune diseases and cancer. Herein, the epigenetic changes of IRSs in BD were evaluated using combined bisulfite restriction analysis-interspersed repetitive sequences (COBRA-IRS). DNA from neutrophils and peripheral blood mononuclear cells (PBMCs) of BD patients with ocular involvement that were in active or inactive states and healthy controls were used to analyze LINE-1 and Alu methylation levels. For Alu sequences, significant differences were observed in the frequency ofCuCualleles between PBMCs of patients and controls (p=0.03), and between inactive patients and controls (p=0.03). For neutrophils, the frequency ofCuCuwas significantly higher between patients and controls (p=0.006) and between inactive patients and controls (p=0.002). The partial methylation (CuCm+CmCu) frequencies of Alu between inactive patients and control samples also differed (p=0.02). No statistically significant differences for LINE-1 were detected. Thus, changes in the methylation level of IRS elements might contribute to the pathogenesis of BD. The role of Alu transcripts in BD should be investigated further.

Author(s):  
Jafar Farhadi ◽  
Mohammad Nouri ◽  
Ebrahim Sakhinia ◽  
Nasser Samadi ◽  
Zohreh Babaloo ◽  
...  

Behçet's disease (BD) is a multisystem inflammatory disease with unknown etiology. Although evidence about the pathogenesis of BD is growing, the actual cause of this disease is unclear. Both genetic and epigenetic factors are claimed to play significant roles in BD. Epigenetic factors such as age, gender, smoking as well as exogenous factors like diet, infection, stress are related to the onset and clinical manifestations of BD. DNA methylation refers to a major epigenetic element which influences gene activities with catalyzing DNA using a set of DNA methyltransferases (Dnmts). DNA methylation status of many genes in patients with BD is different from that of healthy people. For example, cytoskeletal gene, Human Leukocyte Antigen (HLA) loci, Long interspersed nuclear element (LINE-1), and Arthrobacter luteus (Alu) repetitive sequences are different in the DNA methylation status in patients with BD and healthy controls. In this paper we reviewed, according to previous studies, the mechanisms of epigenetic, the epigenetic factors involved in the BD, and especially the effect of DNA methylation in the Behcet’s disease. Future studies are needed to identify the capability of specific DNA methylation alterations in BD in order to predict disease manifestations, medical course, and response to treatment.


2021 ◽  
Vol 10 (11) ◽  
pp. 2318
Author(s):  
Julie Gueudry ◽  
Mathilde Leclercq ◽  
David Saadoun ◽  
Bahram Bodaghi

Behçet’s disease (BD) is a systemic vasculitis disease of unknown origin occurring in young people, which can be venous, arterial or both, classically occlusive. Ocular involvement is particularly frequent and severe; vascular occlusion secondary to retinal vasculitis may lead to rapid and severe loss of vision. Biologics have transformed the management of intraocular inflammation. However, the diagnosis of BD is still a major challenge. In the absence of a reliable biological marker, diagnosis is based on clinical diagnostic criteria and may be delayed after the appearance of the onset sign. However, therapeutic management of BD needs to be introduced early in order to control inflammation, to preserve visual function and to limit irreversible structural damage. The aim of this review is to provide current data on how innovations in clinical evaluation, investigations and treatments were able to improve the prognosis of uveitis associated with BD.


Author(s):  
Omayma Abdelaleem ◽  
Olfat Shaker

IntroductionBackground: The current study designed to analyze whether polymorphisms of miR-146a and miR-155 are related to Behçet’s disease (BD) in Egyptian population.Material and methodsMethods: A total of 96 unrelated BD patients and 100 healthy subjects were genotyped for miR-146a (rs2910164) and miR-155(rs767649) using real-time polymerase chain reaction.ResultsResults: the results showed significant elevation in the frequency of rs2910164 GG and CC genotypes in BD patients compared with controls (adjusted OR = 22.156, 95% CI (4.728-103.818); P < 0.001 and adjusted OR = 40.358, 95% CI (8.928 -182.440); P < 0.001, respectively). Also, rs2910164 G allele conferred a higher risk of developing BD (adjusted OR = 3.665, 95% CI (2.013-6.671); P < 0.001). MiR-146a (rs2910164) polymorphism was a risk factor for susceptibility to BD in dominant, recessive and additive models of inheritance(All P < 0.001), while, the miR-155(rs767649) polymorphism was a risk factor in recessive model only (P = 0.021). GG and CG genotypes of rs2910164 were associated with higher BDCAI activity and ocular involvement compared with CC genotype (P = 0.005 and P =0.004, respectively). Genotype AT of rs767649 was related to higher BDCAI activity (P = 0. 026) compared with TT or AA genotypes.ConclusionsConclusion: The miR-146a (rs2910164) and miR-155(rs767649) were likely to play an important role in Egyptian population to develop BD and also influence disease severity.


2014 ◽  
Vol 2014 ◽  
pp. 1-13 ◽  
Author(s):  
Un Chul Park ◽  
Tae Wan Kim ◽  
Hyeong Gon Yu

Behçet’s disease (BD) is a chronic recurrent systemic inflammatory disorder of unknown etiology characterized by oral and genital ulcerations, skin lesions, and uveitis. The ocular involvement of BD, or Behçet’s uveitis (BU), is characterized by panuveitis or posterior uveitis with occlusive retinal vasculitis and tends to be more recurrent and sight threatening than other endogenous autoimmune uveitides, despite aggressive immunosuppression. Although pathogenesis of BD is unclear, researches have revealed that immunological aberrations may be the cornerstone of BD development. General hypothesis of BD pathogenesis is that inflammatory response is initiated by infectious agents or autoantigens in patients with predisposing genetic factors and perpetuated by both innate and acquired immunity. In addition, a network of immune mediators plays a substantial role in the inflammatory cascade. Recently, we found that the immunopathogenesis of BU is distinct from other autoimmune uveitides regarding intraocular effector cell profiles, maturation markers of dendritic cells, and the cytokine/chemokine environment. In addition, accumulating evidence indicates the involvement of Th17 cells in BD and BU. Recent studies on genetics and biologics therapies in refractory BU also support the immunological association with the pathogenesis of BU. In this review, we provide an overview of novel findings regarding the immunopathogenesis of BU.


Behçet’s Disease (BD) is a chronic multisystem vasculitis with unknown etiology, which is characterized by the triad of recurrent oral ulcers, genital ulcers, and iritis. The eye is one of the most commonly affected organs and typical ocular involvement is panuveitis with hypopyon and retinal vasculitis. The diagnosis is based on clinical evaluation including biomicroscopic and funduscopic examination. This article aims to review the clinical findings, diagnosis, and classification of BD.


2020 ◽  
Vol 16 (3) ◽  
pp. 229-234 ◽  
Author(s):  
Shahriar Alipour ◽  
Ebrahim Sakhinia ◽  
Alireza Khabbazi ◽  
Nasser Samadi ◽  
Zohreh Babaloo ◽  
...  

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