Dystroglycanopathies are a group of muscular dystrophies characterized by abnormal glycosylation of the alpha- subunit of dystroglycan. Abnormal dystroglycan receptor function can clinically manifest as proximal muscle weakness, cardiac abnormalities, respiratory dysfunction, joint contractures, as well as brain and eye malformations.  O-mannose-linked glycosylation of alpha-dystroglycan is necessary for proper functioning of dystroglycan, which serves as a link between the basal lamina and the plasma membrane of the cell.  Protein O-mannosyltransferase 1 (POMT1), along with its homolog POMT2 initiate O-mannose glycan biosynthesis. A limitation to our understanding of POMT1/2 dystroglycanopathies and validation of therapies is the lack of available model organisms. Therefore, the overall objective of our current proposal is to develop conditional knockout mouse models to allow us to further our understanding about the impact of this rare disorder in cardiac and skeletal muscles and determine if aberrant core 1 glycan modifications can influence disease pathology due to POMT1 mutation. The long-term goals of our project are to advance our current knowledge of dystroglycanopathies due to POMT1/2 mutations and develop effective treatments for the diseases.

 

• K Grant Writing Workshop (Dec. '18)
• Iowa Biosciences Academy (IBA) Mentoring Courses: Entering Mentoring, Aligning Expectations (June '18)

• Lab Tour Volunteer - Wellstone Dystroglycanopathy Patient and Family Conference (June '18)

• Currently training one undergraduate research assistant in mouse handling, mouse phenotyping & genotyping, and molecular biology techniques.