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Email

jesus.frias@bcm.edu

Positions

Postdoctoral Fellow

Pathology and Immunology
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Houston, TX US

Education

BS from State University of New York at Albany

05/2017 - Albany, New York United States

PhD from State University of New York at Albany

05/2024 - Albany, New York United States

Professional Interests

• Bioinformatics
• RNA expansion diseases
• Molecular Biology

Professional Statement

Myotonic dystrophy type 1 (DM1) is neuromuscular disease with multisystemic symptoms affecting muscle, heart, brain, and the gastrointestinal (GI) tract. About 79% of DM1 patients report at least one GI related symptom, ranging from issues swallowing to vomiting, diarrhea, and fecal incontinence. Numerous studies have characterized how DM1 can affect skeletal muscle function, but we lack studies on the mechanisms leading to GI symptoms in DM1. The Cooper lab has started to study how the small and large intestines are affected in DM1 using disease transgenic mouse models. My goal is to identify the mechanisms by which DM1 affects the esophagus using DM1 mouse models.
DM1 is caused by a CTG repeat expansion in the 3’ untranslated region (UTR) of the DMPK gene. CUG expanded repeat RNA (CUGexp) sequester muscleblind-like (MBNL) proteins away from their function as regulators of mRNA processing, such as regulation of alternative splicing. The loss of function of MBNL causes changes in alternative splicing which have been linked to symptoms observed in DM1. My project is to test if the expression of CUGexp in the esophagus can cause esophageal dysfunction and identify the molecular changes involved in these phenotypes. I plan on using transgenic mice that express CUGexp in the esophagus as a starting point for my project. The molecular changes caused by CUGexp could serve as potential therapeutic targets for GI symptom relief.

Selected Publications

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Languages

Spanish