Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related

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valls_urinary_2025.pdf (693.92 KB)
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2025-05-13
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Sage
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We aimed to investigate the validity of urinary N-terminal titin (TTN) fragment as a biomarker for limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Thirteen LGMDR1 patients and eleven healthy controls were enrolled for the study. LGMDR1 patients had significantly increased urinary N-terminal titin fragment concentrations than age-matched controls. Even if urinary level of titin decreased with aging, it was still high in wheelchair bound patients. Thus, our findings indicate that urinary N-terminal titin fragment is a non-invasive measure of muscle damage in LGMDR1, which could be used in disease monitoring in clinical trials even in wheelchair-bound patients.
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Biomarker
Calpain 3
Clinical trial
LGMDR1
Phenotype severity
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Valls, A., Ruiz-Roldán, C., Immanuel, J., Camaño, P., Poza, J. J., Fernández-Torrón, R., López de Munain, A., & Sáenz, A. (2025). Urinary N-terminal titin fragment ascertained as biomarker in a small cohort of limb-girdle muscular dystrophy LGMDR1-calpain 3 related. Journal of neuromuscular diseases, 12(5), 683-688. https://doi.org/10.1177/22143602251323629
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https://hdl.handle.net/20.500.14454/3729
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