Presenter
Samantha Bruno
Document Type
Poster
Publication Date
2025
Abstract
Cerebral palsy is a group of various disorders that impact a person's mobility, posture, and balance. It affects muscle control and can be caused by abnormal development of the brain or by brain damage. This condition can develop before birth, during birth, within a month postpartum, or during the child's first year of life while the brain is still in the developmental process. Studying the genetic role of cerebral palsy is crucial to ensure an early diagnosis and proper treatment moving forward. In this research study, genes were explored that have been known to play a role in the development of cerebral palsy, specifically, the F-Box Protein 31 (FBXO31) gene. When looking at this gene it was important to also look at the FBXO31 gene (containing 539 amino acids), which is found on chromosome 16 and is a component of the Skp, Cullin, F-box containing complex (SCF). It is thought to bind and recruit substrates for degradation. This protein is crucial in the body because it acts as a tumor suppressor protein which makes it critical in DNA damage response and tumorigenesis. Cerebral palsy has been commonly linked with a mutation in the FBXO31 gene. The three missense mutations analyzed when conducting this research is D->N at amino acid 334 which changes an aspartic acid to an asparagine, P->H at amino acid 213 which changes from a proline to a histidine, and G->E at amino acid 15 which changes a glycine to a glutamic acid. All three of these mutations are thought to contribute to cerebral palsy.
Faculty Mentor
Kristin Rosler, Ph.D.
Academic Discipline
College of Health & Wellness
Repository Citation
Bruno, Samantha, "The Genetic Role of Cerebral Palsy" (2025). Student Research Design & Innovation Symposium. 181.
https://scholarsarchive.jwu.edu/innov_symposium/181
