Journal of Undergraduate Research
Keywords
collagen 2A1, mouse model, stickler syndrome, mutations
College
Life Sciences
Department
Physiology and Developmental Biology
Abstract
Stickler Syndrome is a severe disease with no cure that occurs in 1/7500 births resulting in extreme ocular, craniofacial, musculoskeletal and cardiovascular problems for those diagnosed. It is caused by mutations in the collagen genes, most often a premature stop codon in the collagen 2A1 gene, although in some cases it is caused by mutations in the collagen 11 A1 and A2 genes. The purpose of this research was to discover an effective method of gene therapy in mice models by reinserting a functional collagen gene into mice embryos using a viral vector and plasmids. I hypothesized that if the gene therapy in the animal model was successful then it would correct the collagen problems that cause the symptoms of Stickler Syndrome.
Recommended Citation
Twiggs, Jamie and Seegmiller, Dr. Robert
(2013)
"Rescuing the Collagen 2A1 Gene in Mouse Model to Alleviate Stickler Syndrome Symptoms,"
Journal of Undergraduate Research: Vol. 2013:
Iss.
1, Article 1515.
Available at:
https://scholarsarchive.byu.edu/jur/vol2013/iss1/1515