Daisy Drinkert

Document Type

Honors Thesis

Major

Biochemistry and Microbiology

Advisor(s)

Clarissa Henry

Committee Members

Robert Glover, Benjamin King, Sally Molloy, Robert Wheeler

Graduation Year

2022

Publication Date

2026

Abstract

Muscle is necessary movement, breathing, efficient blood and lymph circulation, protection of internal organs, and homeostasis. In patients with muscle disease, these functions are negatively affected leading to a decrease in quality of life and shorter lifespan. Limb girdle muscular dystrophy, which can be caused by a mutation in the gmppb gene, is associated with proximal limb weakness, cardiac and respiratory conditions, and hypotonia. There is no cure for limb girdle muscular dystrophy, however understanding the protein dynamics in the disease could lead to therapeutic targets. A high-throughput gene expression study by the Henry Lab revealed that serine proteases are downregulated in a zebrafish model of gmppb associated muscular dystrophy. One downregulated serine protease, ela2l, is orthologous to human chymotrypsin c which has functions in muscle repair as well as muscle wasting. To determine the relationship between ela2l down regulation and phenotypic presentation of the gmppb mutation, I attempted to create a new model for muscular dystrophy by knocking out the ela2l gene in zebrafish. I successfully created a model with mosaic integration of two mutations in ela2l, however one mutation was in-frame which leaves the possibility for effective protein formation.

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