Otosclerosis. 1. rész: patogenezis

2018 ◽  
Vol 159 (30) ◽  
pp. 1215-1220 ◽  
Author(s):  
Balázs Liktor ◽  
Andor Hirschberg ◽  
Tamás Karosi

Abstract: Otosclerosis can be found exclusively in the human otic capsule of the temporal bone. Its etiology is still unknown. In the past decades, several potential etiopathogenetic factors have been revealed, however, most studies were based on otosclerotic patients diagnosed by clinical symptoms only. The current experience indicates that one third of this group suffer from non-otosclerotic stapes fixation. In our experimental series, we have diagnosed and classified otosclerotic patients based on histologic examination, and analyzed also the pathogenetic factors. Recent data demonstrate that measles virus and rs1800472 SNP of transforming growth factor beta 1 (TGFβ1) gene are marked obvious etiologic factors, which have no therapeutic consequences so far. Furthermore, we summarize the genetic and environmental factors to be found in the literature, which may play a fundamental role in the pathogenesis of otosclerosis. Orv Hetil. 2018; 159(30): 1215–1220.

2014 ◽  
Vol 2014 ◽  
pp. 1-14 ◽  
Author(s):  
Roman Nowak ◽  
Magdalena Kwiecien ◽  
Magdalena Tkacz ◽  
Urszula Mazurek

Most researchers agree that idiopathic scoliosis (IS) is a multifactorial disease influenced by complex genetic and environmental factors. The onset of the spinal deformity that determines the natural course of the disease, usually occurs in the juvenile or adolescent period. Transforming growth factorsβ(TGF-βs) and their receptors, TGFBRs, may be considered as candidate genes related to IS susceptibility and natural history. This study explores the transcriptional profile of TGF-βs, TGFBRs, and TGF-βresponsive genes in the paravertebral muscles of patients with juvenile and adolescent idiopathic scoliosis (JIS and AIS, resp.). Muscle specimens were harvested intraoperatively and grouped according to the side of the curve and the age of scoliosis onset. The results of microarray and qRT-PCR analysis confirmed significantly higher transcript abundances of TGF-β2, TGF-β3, and TGFBR2 in samples from the curve concavity of AIS patients, suggesting a difference in TGF-βsignaling in the pathogenesis of juvenile and adolescent curves. Analysis of TGF-βresponsive genes in the transcriptomes of patients with AIS suggested overrepresentation of the genes localized in the extracellular region of curve concavity: LTBP3, LTBP4, ITGB4, and ITGB5. This finding suggests the extracellular region of paravertebral muscles as an interesting target for future molecular research into AIS pathogenesis.


2015 ◽  
Vol 32 (1) ◽  
pp. 43-49 ◽  
Author(s):  
Jelena Popović ◽  
Tatjana Cvetković ◽  
Tanja Džopalić ◽  
Aleksandar Mitić ◽  
Marija Nikolić ◽  
...  

Summary Host response to antigen stimulation in chronic inflammatory periapical lesions is mainly controlled by the balance between proinflammatory and anti-inflammatory cytokines. The aim of this study was to determine the concentration of TGF-β1 in the tissue homogenates of periapical lesions and to analyse its level in relation to the symptomatology of the patients and size of the lesions. Ninety three samples of chronic periapical lesions were obtained after extraction of teeth. Samples were divided according to the clinical symptoms as symptomatic and asymptomatic, and according to the size as large and small. The concentration of TGF-β1 was analyzed using ELISA. The results showed increased production of TGF-β1 in symptomatic lesions compared to asymptomatic, but the difference was not statistically significant. Statistically significant difference in TGF-β1 concentrations was observed in large lesions compared to small (p<0,001). It seems that TGF-β1 have a modulating effect on bone tissue resorption activity under the influence of proinflammatory cytokines and can be molecular prognostic marker of periapical lesion healing.


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