Bioinformatics Analysis of the MBL2 Missense Variants Associated with Cystic fibrosis

Authors

• Elaine Vanterpool, Oakwood UniversityFollow
• Kiar-Ra Cameron, Oakwood University

Faculty Mentor

Dr. Elaine Vanterpool

Files

Description

•Cystic fibrosis is a recessive disease caused by damage in the lung, gastrointestinal (GI) tract, and other epithelial cells. This disease results in thick mucus instead of the normal mucus consistency. This affects gas exhange in the aveoli, which results in difficulty breathing. People with this disease have a higher likelihood of contracting other bronchial infections due malfunctions in chloride channels. A low frequency gene linked to this disease is the Mannose Binding Lectin 2 (MBL2). This gene encodes for a protein that plays an active role in the innate immune system. It serves as a barrier against foreign pathogens by activating the mannose complement system. This protein attaches itself to mannose and N-acetylglucosamine removing the pathogen. This pathway plays a key role in preventing other diseases such as COVID-19, Hepatitis B and HIV-1. Cystic Fibrosis disease has 861 variants and 9 genes that are possible associated with this disease. However, the low frequency MBL2 gene has nine known variants linked to this disease. This low frequency was chosen to determine the correlation between the Missense mutations and the manifestation of this disease.

Publication Date

4-1-2025

City

Huntsville

Disciplines

Biology

Comments

Kiar-Ra Cameron, Student Researcher

Recommended Citation

Vanterpool, Elaine and Cameron, Kiar-Ra, "Bioinformatics Analysis of the MBL2 Missense Variants Associated with Cystic fibrosis" (2025). Student Posters. 169.
https://ouscholars.oakwood.edu/student-posters/169