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Identification of serum microRNAs as potential biomarkers in Pompe disease

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD



This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).


© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association. 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 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.

Publication metadata

Author(s): Carrasco-Rozas A, Fernandez-Simon E, Lleixa MC, Belmonte I, Pedrosa-Hernandez I, Montiel-Morillo E, Nunez-Peralta C, Llauger Rossello J, Segovia S, De Luna N, Suarez-Calvet X, Illa I, Diaz-Manera J, Gallardo E

Publication type: Article

Publication status: Published

Journal: Annals of Clinical and Translational Neurology

Year: 2019

Volume: 6

Issue: 7

Pages: 1214-1224

Print publication date: 01/07/2019

Online publication date: 12/06/2019

Acceptance date: 04/05/2019

Date deposited: 27/02/2020

ISSN (electronic): 2328-9503

Publisher: Wiley-Blackwell


DOI: 10.1002/acn3.50800

PubMed id: 31353854


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