scholarly journals Epigenetics and Behçet’s Disease: DNA Methylation Specially Highlighted

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.

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.


2020 ◽  
Vol 22 (10) ◽  
Author(s):  
Sousan Kolahi ◽  
Nadereh Rashtchizadeh ◽  
Aida Malek Mahdavi ◽  
Jafar Farhadi ◽  
Alireza Khabbazi ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-10 ◽  
Author(s):  
Cinzia Rotondo ◽  
Giuseppe Lopalco ◽  
Florenzo Iannone ◽  
Antonio Vitale ◽  
Rosaria Talarico ◽  
...  

Behçet’s disease (BD) is a multisystemic disorder of unknown etiology characterized by the “triple symptom complex” consisting of recurrent oral aphthosis, genital ulcers, and chronic relapsing bilateral uveitis. Recurrent mucocutaneous lesions are generally considered the hallmark of the disease, being the most common symptoms presenting at the onset of disease. Although the improvement of knowledge about the pathogenetic mechanism added important changes in the treatment management of BD clinical manifestations, thus avoiding the appearance of serious life-threatening complications which are disease related, the mucocutaneous lesions are still the most nagging clinical manifestations to be treated. In this work we reviewed the current state of knowledge regarding the therapeutic approaches for mucocutaneous lesions of BD mainly based on controlled studies to provide a rational framework for selecting the appropriate therapy for treating these troublesome features of the disease.


2012 ◽  
Vol 2012 ◽  
pp. 1-5
Author(s):  
Alejandro Rodríguez Morata ◽  
Ana Hidalgo Conde ◽  
Carlos de la Cruz Cosme ◽  
Susana Gómez Ramírez ◽  
Rafael Gómez Medialdea

Introduction. Behçet's disease (BD) is a form of vasculitis of unknown etiology which is rare in our environment. It is characterized by a variety of clinical manifestations and usually affects young adults. Recurrent oral and genital ulcers are a characteristic and extremely frequent symptom, but mortality is linked with more significant symptoms such as aortic pseudoaneurysm, pulmonary pseudoaneurysm, and cerebral venous thrombosis.Patient and Method. We present a case of a young male with atypical BD and severe polyvascular involvement (previous cerebral venous thrombosis and current peripheral venous thrombosis, acute ischemia, and peripheral arterial pseudoaneurysm) who required urgent surgical intervention due to a symptomatic external iliac pseudoaneurysm.Result. The pseudoaneurysm was successfully treated, we performed an iliofemoral bypass, and we treated it with steroids and immunosuppressive therapy.Conclusions. These rare clinical manifestations highlight the importance of considering BD in young patients, even in usual cases of vascular intervention, whether arterial or venous in nature.


2012 ◽  
Vol 2012 ◽  
pp. 1-9 ◽  
Author(s):  
Aysin Kokturk

Behçet's disease is a multisystemic inflammatory disease of unknown etiology which usually occurs as a trait of symptoms: aphthous stomatitis, genital ulcerations, and ocular disease. At the beginning of the disease the diagnosis is uncertain because of various clinical manifestations and a long period up to the full clinical picture manifestation. Since neither the laboratory data nor the histopathological signs are truly pathognomonic in Behçet's disease, the differential diagnosis depends on a careful evaluation of the medical history and meticulous physical examination to detect concomitant systemic manifestations. Sometimes, some laboratory test may help establish the diagnosis. Subspecialty referral to ophthalmology, rheumatology, neurology, and gastroenterology should be considered when indicated.


2021 ◽  
pp. 101-105
Author(s):  
Esra Bağlan ◽  
Semanur Özdel ◽  
Tülin Güngör ◽  
Deniz Karakaya ◽  
Evra Çelikkaya ◽  
...  

Behçet’s disease (BD) is a multisystemic inflammatory disease with unknown etiology. It is characterized by recurrent oral and genital ulcerations, uveitis, and skin lesions, various musculoskeletal, gastrointestinal, central nervous system, and vascular manifestations. The aim of this study was to analyse the demographic characteristics and clinical features, treatment in Turkish paediatric BD from a single center experience. The records of 36 patients with BD who were diagnosed according to the International Study Group criteria between January 2017 and January 2019 in the department of paediatric rheumatology, were retrospectively reviewed. Data on demographic, clinical features and therapy were collected. A total of 36 (19 male) patients were included in this study. Mean age at disease onset was 9.36±4.45 years and mean age at diagnosis 13.99±2.83 years. The frequencies of signs/symptoms were: recurrent oral aphtosis 100%, genital ulcers 80.6%, musculoskeletal 30.6%, ocular 16.7%, neurological 11.1% and vascular involvement 11.1%, gastrointestinal 2.8%. Colchicine and corticosteroids were the main treatments. In this single-center retrospective study, we analyzed the data of paediatric BD and their treatment from a single center in Turkey. The presented small series and the literature review suggest that paediatric BD is a heterogeneous disease with varied clinical manifestations.


2014 ◽  
Vol 2014 ◽  
pp. 1-8 ◽  
Author(s):  
Didar Ucar-Comlekoglu ◽  
Austin Fox ◽  
H. Nida Sen

Behçet’s disease is a systemic vasculitis of unknown etiology, characterized by oral and genital ulceration, skin lesions, and uveitis as well as vascular, central nervous system, and gastrointestinal system involvement. It is prevalent in the Middle East, Mediterranean, and Eastern Asia. The aim of this review is to evaluate the gender differences in clinical manifestations of Behçet’s disease, treatment responses, mortality, and morbidity. Behçet’s disease has been reported to be more prevalent in males from certain geographic regions and particular ethnic groups; however, recent reports indicate more even gender distribution across the world. There are gender differences in clinical manifestations and severity of the disease. Ocular manifestations, vascular involvement, and neurologic symptoms are more frequently reported in male patients whereas oral and genital ulcers, skin lesions, and arthritis occur more frequently in female patients. The disease can have a more severe course in males, and overall mortality rate is significantly higher among young male patients.


Author(s):  
Anthony Nguyen ◽  
Shubhra Upadhyay ◽  
Muhammad Ali Javaid ◽  
Abdul Moiz Qureshi ◽  
Shahan Haseeb ◽  
...  

Background: Behcet’s Disease (BD) is a complex inflammatory vascular disorder that follows a relapsing-remitting course with diverse clinical manifestations. The prevalence of the disease varies throughout the globe and targets different age groups. There are many variations of BD, however, intestinal BD is not only more common but has many signs and symptoms. Summary: BD is a relapsing-remitting inflammatory vascular disorder with multiple system involvement, affecting vessels of all types and sizes that targets young adults. The etiology of BD is unknown but many factors including genetic mechanisms, vascular changes, hypercoagulability and dysregulation of immune function are believed to be responsible. BD usually presents with signs and symptoms of ulcerative disease of the small intestine; endoscopy being consistent with the clinical manifestations. The mainstay of treatment depends upon the severity of the disease. Corticosteroids are recommended for severe forms of the disease and aminosalicylic acids are used in maintaining remission in mild to moderate forms of the disease. Key messages: In this review, we have tried to summarize in the present review the clinical manifestations, differential diagnoses and management of intestinal BD. Hopefully, this review will enable health policymakers to ponder over establishing clear endpoints for treatment, surveillance investigations and creating robust algorithms.


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.


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