microRNAs as biomarkers in Pompe disease

Antonietta Tarallo, Annamaria Carissimo, Francesca Gatto, Edoardo Nusco, Antonio Toscano, Olimpia Musumeci, Marcella Coletta, Marianthi Karali, Emma Acampora, Carla Damiano, Nadia Minopoli, Simona Fecarotta, Roberto Della Casa, Tiziana Mongini, Liliana Vercelli, Lucio Santoro, Lucia Ruggiero, Federica Deodato, Roberta Taurisano, Bruno BembiAndrea Dardis, Sandro Banfi, W W Pim Pijnappel, Ans T van der Ploeg, Giancarlo Parenti

Research output: Contribution to journalArticle

Abstract

PURPOSE: We studied microRNAs as potential biomarkers for Pompe disease.

METHODS: 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.

RESULTS: 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 clinical improvement.

CONCLUSION: Circulating microRNAs may represent additional biomarkers of Pompe disease severity and of response to therapy.

Original languageEnglish
Number of pages10
JournalGenetics in Medicine
DOIs
Publication statusE-pub ahead of print - Jul 12 2018

Fingerprint

Glycogen Storage Disease Type II
MicroRNAs
Biomarkers
Enzyme Replacement Therapy
Muscular Atrophy
Autophagy
Real-Time Polymerase Chain Reaction
Regeneration
RNA
Phenotype
Gene Expression
Muscles

Cite this

Tarallo, A., Carissimo, A., Gatto, F., Nusco, E., Toscano, A., Musumeci, O., ... Parenti, G. (2018). microRNAs as biomarkers in Pompe disease. Genetics in Medicine. https://doi.org/10.1038/s41436-018-0103-8

microRNAs as biomarkers in Pompe disease. / Tarallo, Antonietta; Carissimo, Annamaria; Gatto, Francesca; Nusco, Edoardo; Toscano, Antonio; Musumeci, Olimpia; Coletta, Marcella; Karali, Marianthi; Acampora, Emma; Damiano, Carla; Minopoli, Nadia; Fecarotta, Simona; Della Casa, Roberto; Mongini, Tiziana; Vercelli, Liliana; Santoro, Lucio; Ruggiero, Lucia; Deodato, Federica; Taurisano, Roberta; Bembi, Bruno; Dardis, Andrea; Banfi, Sandro; Pijnappel, W W Pim; van der Ploeg, Ans T; Parenti, Giancarlo.

In: Genetics in Medicine, 12.07.2018.

Research output: Contribution to journalArticle

Tarallo, A, Carissimo, A, Gatto, F, Nusco, E, Toscano, A, Musumeci, O, Coletta, M, Karali, M, Acampora, E, Damiano, C, Minopoli, N, Fecarotta, S, Della Casa, R, Mongini, T, Vercelli, L, Santoro, L, Ruggiero, L, Deodato, F, Taurisano, R, Bembi, B, Dardis, A, Banfi, S, Pijnappel, WWP, van der Ploeg, AT & Parenti, G 2018, 'microRNAs as biomarkers in Pompe disease', Genetics in Medicine. https://doi.org/10.1038/s41436-018-0103-8
Tarallo A, Carissimo A, Gatto F, Nusco E, Toscano A, Musumeci O et al. microRNAs as biomarkers in Pompe disease. Genetics in Medicine. 2018 Jul 12. https://doi.org/10.1038/s41436-018-0103-8
Tarallo, Antonietta ; Carissimo, Annamaria ; Gatto, Francesca ; Nusco, Edoardo ; Toscano, Antonio ; Musumeci, Olimpia ; Coletta, Marcella ; Karali, Marianthi ; Acampora, Emma ; Damiano, Carla ; Minopoli, Nadia ; Fecarotta, Simona ; Della Casa, Roberto ; Mongini, Tiziana ; Vercelli, Liliana ; Santoro, Lucio ; Ruggiero, Lucia ; Deodato, Federica ; Taurisano, Roberta ; Bembi, Bruno ; Dardis, Andrea ; Banfi, Sandro ; Pijnappel, W W Pim ; van der Ploeg, Ans T ; Parenti, Giancarlo. / microRNAs as biomarkers in Pompe disease. In: Genetics in Medicine. 2018.
@article{a8d61f9f8eea47b9973ed54f41f9f58d,
title = "microRNAs as biomarkers in Pompe disease",
abstract = "PURPOSE: We studied microRNAs as potential biomarkers for Pompe disease.METHODS: 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.RESULTS: 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 clinical improvement.CONCLUSION: Circulating microRNAs may represent additional biomarkers of Pompe disease severity and of response to therapy.",
author = "Antonietta Tarallo and Annamaria Carissimo and Francesca Gatto and Edoardo Nusco and Antonio Toscano and Olimpia Musumeci and Marcella Coletta and Marianthi Karali and Emma Acampora and Carla Damiano and Nadia Minopoli and Simona Fecarotta and {Della Casa}, Roberto and Tiziana Mongini and Liliana Vercelli and Lucio Santoro and Lucia Ruggiero and Federica Deodato and Roberta Taurisano and Bruno Bembi and Andrea Dardis and Sandro Banfi and Pijnappel, {W W Pim} and {van der Ploeg}, {Ans T} and Giancarlo Parenti",
year = "2018",
month = "7",
day = "12",
doi = "10.1038/s41436-018-0103-8",
language = "English",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Nature Publishing Group",

}

TY - JOUR

T1 - microRNAs as biomarkers in Pompe disease

AU - Tarallo, Antonietta

AU - Carissimo, Annamaria

AU - Gatto, Francesca

AU - Nusco, Edoardo

AU - Toscano, Antonio

AU - Musumeci, Olimpia

AU - Coletta, Marcella

AU - Karali, Marianthi

AU - Acampora, Emma

AU - Damiano, Carla

AU - Minopoli, Nadia

AU - Fecarotta, Simona

AU - Della Casa, Roberto

AU - Mongini, Tiziana

AU - Vercelli, Liliana

AU - Santoro, Lucio

AU - Ruggiero, Lucia

AU - Deodato, Federica

AU - Taurisano, Roberta

AU - Bembi, Bruno

AU - Dardis, Andrea

AU - Banfi, Sandro

AU - Pijnappel, W W Pim

AU - van der Ploeg, Ans T

AU - Parenti, Giancarlo

PY - 2018/7/12

Y1 - 2018/7/12

N2 - PURPOSE: We studied microRNAs as potential biomarkers for Pompe disease.METHODS: 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.RESULTS: 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 clinical improvement.CONCLUSION: Circulating microRNAs may represent additional biomarkers of Pompe disease severity and of response to therapy.

AB - PURPOSE: We studied microRNAs as potential biomarkers for Pompe disease.METHODS: 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.RESULTS: 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 clinical improvement.CONCLUSION: Circulating microRNAs may represent additional biomarkers of Pompe disease severity and of response to therapy.

U2 - 10.1038/s41436-018-0103-8

DO - 10.1038/s41436-018-0103-8

M3 - Article

C2 - 29997386

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

ER -