Defense Date
2026
Document Type
Thesis
Degree Name
Master of Science
Department
Physiology and Biophysics
First Advisor
Nicholas Johnson
Second Advisor
Carlos Escalante
Third Advisor
Melissa Hale
Abstract
Myotonic Dystrophy type 1 (DM1) is the most prevalent form of adult-onset muscular dystrophy and affects the skeletal muscles, heart, and central nervous system. While most research has focused on the skeletal muscle and heart, patient surveys indicate that the cognitive symptoms of DM1, including fatigue and executive dysfunction, impact patients’ quality of life as much as skeletal symptoms. There is a strong need for minimally invasive methods of diagnosing and monitoring the neural deficits of DM1. This study sought potential plasma protein biomarkers associated with the cognitive clinical outcome measures of DM1. Correlation analyses identified four candidate plasma proteins that could form the basis for neural blood-based biomarker panels in DM1. This study establishes a foundation for future biomarker research. These findings require validation in larger cohorts and longitudinal studies to determine whether these proteins predict neural symptom progression over time and whether they can be used as objective outcome measures for CNS-focused clinical trials in DM1.
Rights
© The Author
Is Part Of
VCU University Archives
Is Part Of
VCU Theses and Dissertations
Date of Submission
5-6-2026