Deepak Kumar and Rajasri Bhattacharyya and Dibyajyoti Banerjee*

Department of Experimental Medicine and Biotechnology, PGIMER, Chandigarh, India

*Corresponding Author: Dibyajyoti Banerjee, Department of Experimental Medicine and Biotechnology, PGIMER, Chandigarh, India.

Received: July 03, 2023; Published: August 01, 2023

Cystic fibrosis is an inherited disease that, unlike several disorders of the same class can be managed to some extent with drugs. The disease is the outcome of a mutation of a gene located in chromosome 7 that codes for a protein transmembrane conductance regulator (CFTR) protein. CFTR works as a cAMP-activated chloride channel and helps the exocrine glands to perform physiological functions. The most common mutation is delta F508. Here the F508 of the CFTR protein gets deleted while translation. The effect of deletion is grave. It leads to misfolding of the protein in the Golgi apparatus. In this case, the protein channel cannot further mature and get upregulated in the cell surface to exert physiological function [1]. G551D is another relatively uncommon mutation. Here in the 551st position, the glycine is replaced by Aspartic acid. In this case, the protein is defective but gets located at the cell membrane and can exert some function. Both are mutations of clinical concern as keeping both mutations unmanaged can have grave consequences.

References

1. Yu E and Sharma S. “Cystic Fibrosis”. StatPearls, Treasure Island (FL): StatPearls Publishing; (2023).
2. Elboraie S., et al. “Recent Advances in Targeted Genetic Medicines for Cystic Fibrosis”. IntechOpen (2021).
3. https://www.scfbio-iitd.res.in/dock/ActiveSite.jsp
4. Laselva O., et al. “Identification of binding sites for ivacaftor on the cystic fibrosis transmembrane conductance regulator”. iScience 24 (2021): 102542.
5. https://spdbv.unil.ch/
6. Kumar D., et al. “Pseudosterase activity-based specific detection of human serum albumin on gel”. Talanta 224 (2021): 121906.

Citation

Citation: Deepak Kumar and Rajasri Bhattacharyya and Dibyajyoti Banerjee. “In silico Observation of Interaction Pattern Following Docking Simulation has the Potential to Explain the Action of Drugs in Cystic Fibrosis”.Acta Scientific Medical Sciences 7.9 (2023): 01-02.

Copyright

Copyright: © 2023 Deepak Kumar and Rajasri Bhattacharyya and Dibyajyoti Banerjee. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.