Page 124 - GPD-3-2

Gene & Protein in Disease

ORIGINAL RESEARCH ARTICLE
Deciphering novel molecular gene expression

signatures and pathways in cystic fibrosis
through integrative bioinformatics strategies

2,3
Mamun Mia 1 , Arafat Rahman Oany * , Tahmina Pervin 4,5 ,and
Syeda Sharmin Duza 6
1 Department of Psychology, Division of Sciences, University of Otago, Dunedin, New Zealand

2 Department of Veterinary Physiology and Pharmacology, College of Veterinary Medicine &
Biomedical Sciences, Texas A&M University, College Station, Texas, United States of America
3 Aristopharma Limited, Dhaka, Bangladesh
4 Biotechnology and Genetic Engineering Discipline, Life Science School, Khulna University, Khulna,
Bangladesh
5 Department of Biology, College of Arts and Sciences, Texas A&M University, College Station, Texas,
United States of America
6 Environmental, and Occupational Health, School of Public Health, Texas A&M University, College

Station, Texas, United States of America

Abstract

Cystic fibrosis (CF), a fatal autosomal recessive disorder, is triggered by a genetic
alteration of the CF transmembrane conductance regulator (CFTR) gene. On a global
scale, around one in 3000 live births are affected with CF annually. While diagnosis and
therapy are available for CF patients with non-specific and rare mutations, the current
*Corresponding author: research is dedicated to exploring customized biomarkers, genes, signaling networks,
Arafat Rahman Oany
(arafatr@tamu.edu) and therapy for improving the management of CF. Although still in the early stages of
development and validation, mRNA and gene-based treatment strategies are aimed
Citation: Mia M, Oany AR,
Pervin T, Duza SS. Deciphering to target patients who are resistant to CFTR gene restoration therapies. In this study,
novel molecular gene expression we utilized the systems biology approaches integrated with gene expression analysis
signatures and pathways in to identify novel biomarkers and pathways for CF treatment. At first, out of 54,676
cystic fibrosis through integrative
bioinformatics strategies. Gene differentially expressed genes, we identified 104 upregulated and 107 downregulated
Protein Dis. 2024;3(2):2937. genes. The upregulated genes were largely concentrated on Glutamatergic synapses,
doi: 10.36922/gpd.2937 and the downregulated genes were enriched in ubiquitin-mediated proteolysis.
Received: February 15, 2024 Utilizing the enrichment analysis, we explored deeper into the pathways linked to
Accepted: April 29, 2024 these genes, with emphasis on relevant pathways involving bronchial epithelial cells.
Published Online: June 10, 2024 Following the enrichment analysis, we identified six essential genes: WWP2, RNASEL,
Copyright: © 2024 Author(s). CUL1, CDC42, HDAC4, and UBA2. Furthermore, the discovered genes were evaluated
This is an Open-Access article using expression profile analysis. Finally, our data indicate that the WWP2 gene has a
distributed under the terms of the
Creative Commons Attribution critical role in CF management. The current findings provide a coherent theoretical
License, permitting distribution, foundation for future experiments to further explore the WWP2 gene as a unique and
and reproduction in any medium, prognostic target for developing an effective CF therapeutic approach.
provided the original work is
properly cited.
Publisher’s Note: AccScience Keywords: Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator;
Publishing remains neutral with Differentially expressed genes; Upregulated gene; Downregulated gene; Biomarkers;
regard to jurisdictional claims in
published maps and institutional Gene Expression Omnibus
affiliations.

Volume 3 Issue 2 (2024) 1 doi: 10.36922/gpd.2937