2026-08-29T14:25:13Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/228252024-11-28T21:38:47Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967
Repisalud author Carrasco-Rozas, Ana author Fernandez-Simon, Esther author Cinta Lleixa, Maria author Belmonte, Izaskun author Pedrosa-Hernandez, Irene author Montiel-Morillo, Elena author Nunez-Peralta, Claudia author Llauger Rossello, Jaume author Segovia, Sonia author de Luna, Noemi author Suarez-Calvet, Xavier author Illa, Isabel author Pompe Spanish Study group author Diaz-Manera, Jordi author Gallardo, Eduard author Parajua-Pozo, Jose Luis author Uson Martin, Mercedes 2024-09-10T13:10:38Z 2024-09-10T13:10:38Z 2019-07 Carrasco-Rozas A, Fernandez-Simon E, Cinta Lleixa M, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, et al. Identification of serum microRNAs as potential biomarkers in Pompe disease. Ann Clin Transl Neurol. 2019 Jul;6(7):1214-24. Epub 2019 Jun 12. 10.1002/acn3.50800 2328-9503 Annals of Clinical and Translational Neurology http://hdl.handle.net/20.500.13003/17146 31353854 L628234597 2-s2.0-85067656539 https://hdl.handle.net/20.500.12105/22825 476766600007 Objective: To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). Methods: We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. The expression levels of microRNAs that were deregulated were further studied in 35 AOPD patients and 10 controls using Real-Time PCR. Additionally, the skeletal muscle expression of microRNAs which showed significant increase levels in serum samples was also studied. Correlations between microRNA serum levels and muscle function test, spirometry, and quantitative muscle MRI were performed (these data correspond to the study NCT01914536 at ClinicalTrials.gov). Results: We identified 14 microRNAs that showed different expression levels in serum samples of AOPD patients compared to controls. We validated these results in a larger cohort of patients and we found increased levels of three microRNAs, the so called dystromirs: miR-1-3p, miR-133a-3p, and miR-206. These microRNAs are involved in muscle regeneration and the expression of these was increased in patients' muscle biopsies. Significant correlations between microRNA levels and muscle function test were found. Interpretation Serum expression levels of dystromirs may represent additional biomarkers for the follow-up of AOPD patients. eng Identification of serum microRNAs as potential biomarkers in Pompe disease research article