Molecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations
Journal Title: Journal of Biomedical Physics and Engineering - Year 2019, Vol 9, Issue 3
Abstract
Background: Cholestatic disorders are divided in the extra and intra-hepatic that created due to the severe liver diseases. ABCB11 encodes the bile salt export pump and this gene is mutated in several forms of intrahepatic cholestasis. So far, some molecular features of this gene was studies. Objective: Using a developed web server, we identified high number of rare codons in this gene, and four cases were related to BSEP-deficient patients which can be used for drug design. Material and Methods: By in-silico modelling of ABCB11, some of rare codons in different locations of ATP8b1 gene were identified and evaluated. Using several web servers a number of mutations that converted non-rare codons to rare codon in these patients were identified. Results: Some of these rare Codons were located at special positions by mutation of which, the new side chains do not seem suitable for protein structure and function. Furthermore, this mutation changed the protein folding rate that may have a critical role in proper folding. Thus, primary change of these codons contributes to BSEP deficiency. Conclusion: This work is a comprehensive analysis of rare codons of ABCB11 and assessment of a number of these rare codon in protein levels. Rare codons evaluation can enhance our understanding of ABCB11 structural protein of ABCB11, and help us to develop mutation-specific therapies in design of new drugs. Citation: Zarenezhad M, Dehghani S. M, Ejtehadi F, Fattahi M. R, Mortazavi M, Tabei S. M. B. Evaluation of Hidden Information in ABCB11 Gene Mutations. J Biomed Phys Eng. 2019;9(3):303-316. https://doi.org/10.31661/jbpe.v9i3Jun.680.
Authors and Affiliations
S. M. Dehghani, M. Zarenezhad, F. Ejtehadi, M. R. Fattahi, S. M. B. Tabei
Keywords
Related Articles
- EP ID EP613557
- DOI -
- Views 127
- Downloads 0
Dosimetry of Critical Organs in Maxillofacial Imaging with Cone-beam Computed Tomography
Background: While the benefits of cone-beam computed tomography (CBCT) are well known in maxillofacial imaging, the use of this modality is not risk-free. Objective: The aim of this study was to evaluate the exposure dos...
Evaluation of Blood Parameters Alteration Following Low-dose Radiation Induced by Myocardial Perfusion Imaging
Introduction: With increasing the usage of myocardial perfusion imaging (MPI) for the diagnosis of ischemic heart disease, we aimed to evaluate the side effects of low-dose radiation induced by this technique on blood el...
The Effect of Gold Nanoparticles on Electrical Impedance of Tissue on Low Frequency Ranges
Introduction: Electrical impedance of tissues on low frequencies includes useful information about functional and structural changes in tissues. This property is used in Electrical Impedance Tomography (EIT) imaging moda...
In vitro Evaluation of the Relationship between Gray Scales in Digital Intraoral Radiographs and Hounsfield Units in CT Scans
Background: Jaw bone quality plays an essential role in treatment planning and prognosis of dental implants. Regarding several available methods for bone density measurements, they are not routinely used before implant s...
Does Exposure to Static Magnetic Fields Generated by Magnetic Resonance Imaging Scanners Raise Safety Problems for Personnel?
MRI workers are occupationally exposed to static and time-varying gradient magnetic fields. While the 24-hour time-averaged exposure to static magnetic fields is about a few mT, the maximum static field strength can be a...