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oai:repisalud.isciii.es:20.500.12105/227742024-11-28T22:15:37Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Fernandez-Simon, Esther author Carrasco-Rozas, Ana author Gallardo, Eduard author Figueroa-Bonaparte, Sebastian author Belmonte, Izaskun author Pedrosa, Irene author Montiel, Elena author Suarez-Calvet, Xavier author Alonso-Perez, Jorge author Segovia, Sonia author Nunez-Peralta, Claudia author Llauger, Jaume author Mayos, Mercedes author Illa, Isabel author Spanish Pompe Study Group author Díaz-Manera, Jordi author 2019-02-14 Adult onset Pompe disease is a genetic disorder characterized by slowly progressive skeletal and respiratory muscle weakness. Symptomatic patients are treated with enzymatic replacement therapy with human recombinant alfa glucosidase. Motor functional tests and spirometry are commonly used to follow patients up. However, a serological biomarker that correlates with the progression of the disease could improve follow-up. We studied serum concentrations of TGF beta, PDGF-BB, PDGF-AA and CTGF growth factors in 37 adult onset Pompe patients and 45 controls. Moreover, all patients performed several muscle function tests, conventional spirometry, and quantitative muscle MRI using 3-point Dixon. We observed a statistically significant change in the serum concentration of each growth factor in patients compared to controls. However, only PDGF-BB levels were able to differentiate between asymptomatic and symptomatic patients, suggesting its potential role in the follow-up of asymptomatic patients. Moreover, our results point to a dysregulation of muscle regeneration as an additional pathomechanism of Pompe disease. Fernandez-Simon E, Carrasco-Rozas A, Gallardo E, Figueroa-Bonaparte S, Belmonte I, Pedrosa I, et al. PDGF-BB serum levels are decreased in adult onset Pompe patients. Sci Rep. 2019 Feb 14;9:2139. 10.1038/s41598-018-38025-0 2045-2322 Scientific Reports http://hdl.handle.net/20.500.13003/17650 30765719 L626393215 2-s2.0-85061585144 https://hdl.handle.net/20.500.12105/22774 458619600138 PDGF-BB serum levels are decreased in adult onset Pompe patients