Project Team
Students
Bradley Scanlon
Biomedical Engineering
Penn State University Park
Faculty Mentors
Santhosh Girirajan
Penn State University Park
Biochemistry and Molecular Biology
Project
Project Video
Project Abstract
Sex bias is present in all neurodevelopmental diseases (NDD), but the molecular causes behind increased male sensitivity to NDD remains unclear. Approximately 1% of the world population has been diagnosed with autism, and an even greater percentage suffer from intellectual disabilities, with males four-times more likely to suffer from these disorders than females. Understanding which genes and genetic interactions are affected by sex bias and increased severity in males will allow researchers to understand potential mechanisms for these diseases in order to devise treatment strategies in the future. To examine these phenomena, Drosophila melanogaster models were employed as model organisms due to their genetic similarity to human disease-associated genes, fast breeding times, and robust testing potential. The motor development of the flies was tested through a climbing assay after specific genes were knocked out using RNA interference.
TAF1 and FMR1 genes were examined; they are located within the 16p11.2 chromosomal region, which when deleted, often causes intellectual disability. Through this analysis, it was found that deleting both genes causes motor skills to be diminished more in males than females, proving the sex bias and the functional purpose of these genes. More specific genes will continue to be tested to further understand NDD sex sensitivity, which will help to identify molecular networks and disease mechanisms in the future.
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