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Identification of serum microRNAs as potential biomarkers in Pompe disease

AuthorsCarrasco-Rozas, Ana; Fernández-Simón, Esther; Cinta Lleixà, Maria; Belmonte, Izaskun; Pedrosa-Hernandez, Irene; Montiel-Morillo, Elena; Nuñez-Peralta, Claudia; Llauger Rossello, Jaume; Segovia, Sonia; De Luna, Noemí; Suárez-Calvet, Xavier; Illa, Isabel; Díaz-Manera, Jordi; Gallardo, Eduard
Issue Date2019
PublisherAmerican Neurological Association
John Wiley & Sons
CitationAnnals of Clinical and Translational Neurology 6(7): 1214-1224 (2019)
Abstract[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.
DescriptionCoinvestigators – The Spanish Pompe Study Group: Miguel Angel Barba-Romero; Joseba Barcena; María Rosario Carzorla; Carlota Creus; Jaume Coll-Canti; Noemí de Luna; Manuel Díaz; Cristina Domínguez; Roberto Fernández Torrón; María José García Antelo; Josep María Grau; María Teresa Gómez Caravaca; Juan Carlos León Hernández; Adolfo López de Munain; Francisco Antonio Martinez-García; Yolanda Morgado; Antonio Moreno; Germán Morís; Miguel Angel Muñoz-Blanco; Andres Nascimento; Carmen Paradas; José Luis Parajua Pozo; Luis Querol; Arturo Robledo-Strauss; Ricard Rojas García, Ricard; Íñigo Rojas-Marcoso; José Antonio Salazar; Mercedes Usón
Publisher version (URL)https://doi.org/10.1002/acn3.50800
Identifiersdoi: 10.1002/acn3.50800
e-issn: 2328-9503
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