Date of Award

Spring 2026

Language

English

Embargo Period

4-28-2028

Document Type

Master's Thesis

Degree Name

Master of Science (MS)

College/School/Department

Department of Biological Sciences

Program

Biology

First Advisor

J. Andrew Berglund

Second Advisor

Cécilia Légaré

Committee Members

J. Andrew Berglund, Kaalak Reddy, Elise Vogt

Keywords

Bioinformatics, Gene Expression, Repeat Expansion Diseases, Human Disease, RNA Sequencing

Subject Categories

Bioinformatics | Biology | Cell Biology | Computational Biology | Genetics and Genomics

Abstract

Myotonic Dystrophy type 1 (DM1) is the most common form of adult-onset muscular dystrophy, affecting roughly 1 in 8000 people worldwide. DM1, a member of the family of repeat expansion diseases, is caused by a CTG trinucleotide expansion in the 3’ UTR of the DMPK gene. In general, disease occurs when CTG repeat length expands to 50 or more, with longer repeats roughly correlated with greater disease severity and earlier onset. The expanded number of CTG repeats allows the RNA to form a 3D structure that sequesters the RNA binding protein MBNL1 leading to dysregulated alternative splicing and changes in global gene expression. Specific alternative splicing events are associated with symptoms of DM1, including myotonia and insulin resistance. To better understand changes in gene expression in early onset DM1 patients, we analyzed RNA sequencing (RNA-Seq) data generated from 20 DM1 patients at two time points. Patient samples were coded with time of DM1 onset, and samples from both adult and juvenile onset patients showed changes in gene expression over time that were significantly larger than changes seen in samples from patients with late onset disease. From these data, we identified LINC01038 as a gene of interest because of its drastic changes in these patients over time and its relative absence in healthy control samples.  To investigate this genes importance in DM1 further, we also analyzed four additional RNA-Seq datasets and found this gene similarly increased in patient samples when compared to healthy controls. While the connection between LINC01038’s expression and the pathogenesis of DM1 is still unclear, its significant increase in DM1 patient tissues warrants further investigation.

License

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

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Available for download on Friday, April 28, 2028

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