microRNAs as biomarkers in Pompe disease

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Antonietta TaralloGiancarlo Parenti

Abstract

We studied microRNAs as potential biomarkers for Pompe disease. We analyzed microRNA expression by small RNA-seq in tissues from the disease murine model at two different ages (3 and 9 months), and in plasma from Pompe patients. In the mouse model 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 six patients 55 microRNAs were differentially expressed. Sixteen of these microRNAs were common to those dysregulated in mouse tissues. These microRNAs are known to modulate the expression of genes involved in relevant pathways for Pompe disease pathophysiology (autophagy, muscle regeneration, muscle atrophy). One of these microRNAs, miR-133a, was selected for further quantitative real-time polymerase chain reaction analysis in plasma samples from 52 patients, obtained from seven Italian and Dutch biobanks. miR-133a levels were significantly higher in Pompe disease patients than in controls and correlated with phenotype severity, with higher levels in infantile compared with late-onset patients. In three infantile patients miR-133a decreased after start of enzyme replacement therapy and evidence of...Continue Reading

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Citations

Jul 13, 2019·Human Gene Therapy·Pasqualina Colella, Federico Mingozzi
Aug 4, 2020·Aging·Simona TavernaGiovanni Duro
Sep 24, 2020·Biomolecules·Naresh K Meena, Nina Raben
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Dec 17, 2020·Journal of Inherited Metabolic Disease·Anna SidorinaCarlo Dionisi-Vici
Jan 19, 2021·EMBO Molecular Medicine·Giancarlo ParentiAndrea Ballabio

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Methods Mentioned

BETA
enzyme replacement therapy
nuclear magnetic resonance
RNA-seq
chip
Assay

Software Mentioned

Limma
edgeR
CASAVA
TargetScan
TargetsScan

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