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Journal
2014 | 9 | 6 | 811-813
Article title

Analysis of the SMAD4 gene in asthma

Content
Title variants
Languages of publication
EN
Abstracts
EN
Considering the importance of the TGF-β signaling pathway for normal lung function and especially its roles in inflammation and tissue remodeling, key features of asthma pathology, it can be assumed that these molecules may harbor mutations in asthmatics. The aim of this study was to analyze the SMAD4 gene in patients with asthma. Analysis has encompassed exons 10, 11, 12 and 13 encoding the carboxy-terminal (MH2) domain of the SMAD4 protein, where mutations most frequently occur. The study included 50 patients (20 men and 30 women) with asthma aged between 17 and 73 years (average age 45.2±15.6 years). Polymerase chain reaction (PCR) was used to amplify exons 10, 11, 12 and 13 of the SMAD4 gene and the obtained PCR products were subjected to direct DNA sequencing. No nucleotide changes were found in any of the analyzed exons in either of the subjects. Based on the results of this study, it seems that mutations in the carboxy-terminal (MH2) domain of the SMAD4 are not present in asthmatic patients. Future research should be directed at the analysis of the complete gene, including regulatory elements, in order to resolve the exact role of SMAD4 in asthma.
Keywords
EN
Asthma   SMAD4  
Publisher

Journal
Year
Volume
9
Issue
6
Pages
811-813
Physical description
Dates
published
1 - 12 - 2014
online
16 - 8 - 2014
Contributors
  • Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia, aleksni@imgge.bg.ac.rs
  • Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
  • Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_s11536-013-0316-9
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