The Effect of Mutations in the Genes of Diacylglycerol Kinase Theta and Phospholipid Phosphate 7 Proteins on the Progression of Port Wine Stain
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 skin disease that appears in three to five out of every 1000 births. The mutation of the GNAQ gene at (c.548G>A; p.R183Q) is known to be a leading factor behind the development of PWS. Currently, the sub-factors causing PWS remain unclear. Mutations of the DGKQ protein at (c.653G>A; p. C218Y) and the PLPP7 protein at (c.634A>C, p.Lys212Gln) are suspected as potential cofactors. The purpose of this study was to confirm whether the somatic mutations of both genes were present in the skin tissues of subjects with PWS. It was hypothesized that if mutations occurred in the genes coding for DGKQ and PLPP7 proteins, then the disease would progressively worsen due to the growth of abnormal blood vessels. The DNA from 42 skin samples was extracted, a PCR was run, an NGS library was constructed, and the samples were sequenced. The results demonstrated that the DGKQ mutation occurs in 19.0% of PWS patients with an average mutation frequency of 1.741%, The PLPP7 mutation occurs in 14.3% of PWS patients with an average mutation frequency of 2.989%. The data was analyzed statistically using a t-test. The results suggest that the mutations are a secondary factor to the development of PWS in a subpopulation of patients. Positive DGKQ and PLPP7 mutations occurred in macular and hypertrophic lesions but not in nodular lesions, suggesting the mutations are contributing factors to the initial stages of the disease.
Recommended Citation
Taine, Iraine, "The Effect of Mutations in the Genes of Diacylglycerol Kinase Theta and Phospholipid Phosphate 7 Proteins on the Progression of Port Wine Stain" (2022). South Carolina Junior Academy of Science. 24.
https://scholarexchange.furman.edu/scjas/2022/all/24
Location
HSS 203
Start Date
4-2-2022 11:15 AM
Presentation Format
Oral and Written
Group Project
No
The Effect of Mutations in the Genes of Diacylglycerol Kinase Theta and Phospholipid Phosphate 7 Proteins on the Progression of Port Wine Stain
HSS 203
Port wine stain (PWS) is a skin disease that appears in three to five out of every 1000 births. The mutation of the GNAQ gene at (c.548G>A; p.R183Q) is known to be a leading factor behind the development of PWS. Currently, the sub-factors causing PWS remain unclear. Mutations of the DGKQ protein at (c.653G>A; p. C218Y) and the PLPP7 protein at (c.634A>C, p.Lys212Gln) are suspected as potential cofactors. The purpose of this study was to confirm whether the somatic mutations of both genes were present in the skin tissues of subjects with PWS. It was hypothesized that if mutations occurred in the genes coding for DGKQ and PLPP7 proteins, then the disease would progressively worsen due to the growth of abnormal blood vessels. The DNA from 42 skin samples was extracted, a PCR was run, an NGS library was constructed, and the samples were sequenced. The results demonstrated that the DGKQ mutation occurs in 19.0% of PWS patients with an average mutation frequency of 1.741%, The PLPP7 mutation occurs in 14.3% of PWS patients with an average mutation frequency of 2.989%. The data was analyzed statistically using a t-test. The results suggest that the mutations are a secondary factor to the development of PWS in a subpopulation of patients. Positive DGKQ and PLPP7 mutations occurred in macular and hypertrophic lesions but not in nodular lesions, suggesting the mutations are contributing factors to the initial stages of the disease.
