Computational Analysis for Determining Differentially-Expressed Genes in Port Wine Stain Mesenchymal Stem Cells

School Name

Spring Valley High School

Grade Level

10th Grade

Presentation Topic

Cell and Molecular Biology

Presentation Type

Mentored

Abstract

Port wine stain (PWS) is a vascular malformation present at birth with an occurrence of 0.3%. PWS appears as red or pink skin lesions and progressively dilates. However, there is a lack of information on the pathways that may lead to the development of PWS, only being researched recently. The purpose of this study was to determine dysregulated pathways that may lead to the development of PWS. It was hypothesized that there would be dysregulation of genes in the pathways of cells as compared to healthy cells because many mutations, such as PI3K and MAPK, are present in PWS cells and cause various effects such as abnormal cell growth. RNA sequences were extracted from two PWS mesenchymal stem cell lines and were sequenced using bioinformatics. Diseased cells were compared against each other and a healthy cell line. The top 50 dysregulated pathways based on the lowest p-value were given for each comparison. A quasi-likelihood f-test was used to determine the p-value of the dysregulated genes. The hypothesis was supported as all the pathways in the top 50 of the comparison were significantly dysregulated (p < 10–4). When comparing the diseased cell lines against the control, there were significant differences in blood vessel development and cell-to-cell contact. When comparing the diseased cell lines against each other, there were differences in cholesterol and sterol metabolism. Specific pathways were further investigated for each comparison. It was concluded that pathways in PWS mesenchymal stem cells have dysregulated genes compared to healthy mesenchymal stem cells.

Location

RITA 271

Start Date

3-23-2024 11:30 AM

Presentation Format

Oral and Written

Group Project

No

COinS
 
Mar 23rd, 11:30 AM

Computational Analysis for Determining Differentially-Expressed Genes in Port Wine Stain Mesenchymal Stem Cells

RITA 271

Port wine stain (PWS) is a vascular malformation present at birth with an occurrence of 0.3%. PWS appears as red or pink skin lesions and progressively dilates. However, there is a lack of information on the pathways that may lead to the development of PWS, only being researched recently. The purpose of this study was to determine dysregulated pathways that may lead to the development of PWS. It was hypothesized that there would be dysregulation of genes in the pathways of cells as compared to healthy cells because many mutations, such as PI3K and MAPK, are present in PWS cells and cause various effects such as abnormal cell growth. RNA sequences were extracted from two PWS mesenchymal stem cell lines and were sequenced using bioinformatics. Diseased cells were compared against each other and a healthy cell line. The top 50 dysregulated pathways based on the lowest p-value were given for each comparison. A quasi-likelihood f-test was used to determine the p-value of the dysregulated genes. The hypothesis was supported as all the pathways in the top 50 of the comparison were significantly dysregulated (p < 10–4). When comparing the diseased cell lines against the control, there were significant differences in blood vessel development and cell-to-cell contact. When comparing the diseased cell lines against each other, there were differences in cholesterol and sterol metabolism. Specific pathways were further investigated for each comparison. It was concluded that pathways in PWS mesenchymal stem cells have dysregulated genes compared to healthy mesenchymal stem cells.