Mutations in a structural muscle protein called dystrophin result in muscle fiber degradation and diseases such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Such muscle fiber degradation can result in large titin fragments being released into serum and excreted into the urine. Compared to current methods using muscle biopsy and serum collection, our study utilizes urine as a potential non-invasive method for monitoring disease progression in BMD by quantifying urinary titin fragments. This is done through development of an immunoassay based on the enzyme linked immunosorbent assay (ELISA) format using liposomal technology as a method of detection. The development of this platform is expected to provide discrimination between disease severities in BMD patients in hopes to better monitor disease progression and could be used for other muscular dystrophies and cardiomyopathies impacted by titin. Such as titin-related mutations that cause diseases like Emery-Dreifuss, limb-girdle, and tibial muscular dystrophy.
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Le, Kimchi and Stahura, Corrine, "Biomarker Assay Development: Urinary Titin in Becker Muscular Dystrophy" (2023). Research Days Posters 2023. 50.