By Jada Gundy, Arshpreet Brar

Faculty Mentor: Ginny Morriss

Abstract

Myotonic dystrophy type 1 (DM1) is a multi-systemic condition that results in severe muscle weakening and wasting. DM1 is caused by an expanded region of CTG repeats in the DMPK gene, resulting in expression of a toxic CUG repeat-containing RNA. While the primary DM1 mutation is known, the full consequences of this mutation remain unknown. A previous study, it was suggested that genes involved in blood vessel maintenance and development are also affected in DM1. The goal of this experiment was to determine whether blood vessel development is affected by expression of CUG repeat-containing RNA. Within our project, human umbilical vein cells (HUVECs) expressing a segment of the DMPK RNA containing 960 CUG (CUG960) repeats were used to model DM1 blood vessels. Repeat-expressing HUVEC cells were compared to cells that expressed the same portion of DMPK without repeats (CUG0) and to cells that did not express any extra DNA (mock). Six replicates of each HUVEC treatment were performed prior to plating cells. The cells were allotted 24 hours to develop into vessels, then imaged every 3 hours for 24 hours. These images were then quantified to show the extent of the developmental disruption in the vessels.