Transcriptome-Wide Gene Expression Analysis of Skeletal Muscles of Duchenne Muscular Dystrophy Mouse Models and Patients

Author

Olivia N. Ransiear, University at Albany, State University of New YorkFollow

ORCID

https://orcid.org/0009-0002-6684-8656

Date of Award

Spring 2025

Language

English

Embargo Period

4-25-2026

Document Type

Master's Thesis

Degree Name

Master of Science (MS)

College/School/Department

Department of Biological Sciences

Program

Biology

First Advisor

Bijan Dey

Committee Members

Melinda Larsen, Andrew Berglund

Keywords

Duchenne Muscular Dystrophy, Mdx, Differential Gene Expression Analysis, Single Cell RNA Sequencing

Subject Categories

Biology | Cell and Developmental Biology | Genetics and Genomics | Research Methods in Life Sciences

Abstract

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive muscle degenerative disease that frequently proves fatal by age 30. It primarily affects adolescent males with symptoms appearing as early as age 6. Patients quickly lose their ability to walk due to muscle weakness and are confined to wheelchairs for the remainder of their lives. DMD is caused by a mutation in the dystrophin gene. Without dystrophin, mechanical stress, injury, or shock takes a drastic toll on muscle tissue and muscle stem cells, rendering them unable to regenerate or be repaired. This results in a rapid loss of muscular strength and muscle mass. DMD patients eventually become so weak that they lose the ability to breathe, and their hearts fail to contract properly which ultimately results in death. Mdx mus musculus, a mouse model organism used to study DMD is widely accepted as accurate and is used in many different scientific studies to examine various aspects of DMD affecting patients worldwide. The most commonly used Mdx model contains a missense mutation at exon 23. However, another model has been developed with a mutation at exon 51, notated by D51. Using muscle samples taken from the tibialis anterior (TA) muscle of both human DMD patients and both Mdx mus musculus models paired with healthy control samples from the respective organisms (homo sapiens and mus musculus), I compare trends in gene expression of human Duchenne patients with each of the Mdx models, as well as the Mdx models against each other through use of bulk RNA sequencing. To further my understanding of gene expression in the D51 Mdx model organism, I use single-cell RNA sequencing to analyze and examine the impact of the Duchenne genotype on different cell types. This will provide important insight related to DMD and the specific cell types that may be more impacted than others in Duchenne patients.

License

This work is licensed under the University at Albany Standard Author Agreement.

Recommended Citation

Ransiear, Olivia N., "Transcriptome-Wide Gene Expression Analysis of Skeletal Muscles of Duchenne Muscular Dystrophy Mouse Models and Patients" (2025). Electronic Theses & Dissertations (2024 - present). 145.
https://scholarsarchive.library.albany.edu/etd/145