Valls Andrea, Ruiz-Roldán Cristina, Immanuel Jenita, Camaño Pilar, Poza Juan José, Fernández-Torrón Roberto, López de Munain Adolfo, Sáenz Amets
Neuromuscular Diseases Group, Neurosciences Area, Biogipuzkoa Health Research Institute, San Sebastian, Spain.
CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain.
J Neuromuscul Dis. 2025 Sep;12(5):683-688. doi: 10.1177/22143602251323629. Epub 2025 May 13.
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.
