MICRO-RNA AS BIOMARKERS IN POMPE DISEASE

We studied microRNAs as potential biomarkers for Pompe disease (PD). We analyzed microRNA expression by small RNA-seq in tissues from the PD mouse model at two different ages (3 and 9 months), and in plasma from 6 PD patients. In the PD mouse we found 211 microRNAs that were differentially expressed in gastrocnemii and 66 in heart, with a different pattern of expression at different ages. In a preliminary analysis in plasma from 6 PD patients 55 microRNAs were differentially expressed. Plasma miRNA profiles of 6 PD patients and 6 controls were generated by next generation sequencing (NGS). 3 and 9 months-old wild-type (WT) and PD mice were generated in triplicate by NGS