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NOTCH1 Mutations in Aortic Stenosis: Association with OsteoprotegerinRANKRANKL
Joint Authors
Olga, Freylihman
Bäck, Magnus
Malashicheva, Anna
Irtyuga, Olga
Moiseeva, Olga
Zhiduleva, Ekaterina
Freylikhman, Olga
Rotar, Oxana
Tarnovskaya, Svetlana
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-01-26
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Background.
The NOTCH pathway is known to be important in the pathogenesis of calcific aortic valve disease, possibly through regulators of osteoprotegerin (OPG), receptor activator of nuclear factor κB (RANK), and its ligand (RANKL) system.
The purpose of the present study was to search for possible associations between NOTCH1 gene mutations and circulating levels of OPG and soluble RANKL (sRANKL) in patients with aortic stenosis (AS).
Methods.
The study was performed on 61 patients with AS including 31 with bicuspid and 30 with tricuspid aortic valves.
We applied a strategy of targeted mutation screening for 10 out of 34 exons of the NOTCH1 gene by direct sequencing.
Serum OPG and sRANKL levels were assessed.
Results.
In total, 6 genetic variants of the NOTCH1 gene including two new mutations were identified in the study group.
In an age- and arterial hypertension-adjusted multivariable regression analysis, the serum OPG levels and the OPG/sRANKL ratio were correlated with NOTCH1 missense variants.
All studied missense variants in NOTCH1 gene were found in Ca(2+)-binding EGF motif of the NOTCH extracellular domain bound to Delta-like 4.
Conclusion.
Our results suggest that the OPG/RANKL/RANK system might be directly influenced by genetic variants of NOTCH1 in aortic valve calcification.
American Psychological Association (APA)
Irtyuga, Olga& Malashicheva, Anna& Zhiduleva, Ekaterina& Freylikhman, Olga& Rotar, Oxana& Bäck, Magnus…[et al.]. 2017. NOTCH1 Mutations in Aortic Stenosis: Association with OsteoprotegerinRANKRANKL. BioMed Research International،Vol. 2017, no. 2017, pp.1-10.
https://search.emarefa.net/detail/BIM-1138281
Modern Language Association (MLA)
Irtyuga, Olga…[et al.]. NOTCH1 Mutations in Aortic Stenosis: Association with OsteoprotegerinRANKRANKL. BioMed Research International No. 2017 (2017), pp.1-10.
https://search.emarefa.net/detail/BIM-1138281
American Medical Association (AMA)
Irtyuga, Olga& Malashicheva, Anna& Zhiduleva, Ekaterina& Freylikhman, Olga& Rotar, Oxana& Bäck, Magnus…[et al.]. NOTCH1 Mutations in Aortic Stenosis: Association with OsteoprotegerinRANKRANKL. BioMed Research International. 2017. Vol. 2017, no. 2017, pp.1-10.
https://search.emarefa.net/detail/BIM-1138281
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1138281