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RESEARCH ARTICLE
Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a
Roberta Resaz, Davide Cangelosi, Martina Morini, Daniela Segalerba, Luca Mastracci, Federica Grillo, Maria Carla Bosco, Cristina Bottino, Irma Colombo, Alessandra Eva
Disease Models & Mechanisms 2020 13: dmm043364 doi: 10.1242/dmm.043364 Published 18 September 2020
Roberta Resaz
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Davide Cangelosi
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Martina Morini
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Daniela Segalerba
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Luca Mastracci
2Department of Surgical and Diagnostic Sciences (DISC), Anatomic Pathology Unit, Università degli Studi di Genova, Viale Benedetto XV 6, 16132 Genova, Italy
3National Cancer Research Institute, IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy
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Federica Grillo
2Department of Surgical and Diagnostic Sciences (DISC), Anatomic Pathology Unit, Università degli Studi di Genova, Viale Benedetto XV 6, 16132 Genova, Italy
3National Cancer Research Institute, IRCCS Ospedale Policlinico San Martino, Largo Rosanna Benzi 10, 16132 Genova, Italy
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Maria Carla Bosco
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Cristina Bottino
4Department of Experimental Medicine, School of Medicine, Università degli Studi di Genova, Via L. B. Alberti 2, 16132 Genova, Italy
5Laboratory of Clinical and Experimental Immunology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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Irma Colombo
6Department of Pharmacological and Biomolecular Sciences, Università degli Studi di Milano, via D. Trentacoste 2, 20134 Milano, Italy
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Alessandra Eva
1Laboratory of Molecular Biology, IRCCS Istituto Giannina Gaslini, Via G. Gaslini 5, 16147 Genova, Italy
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  • ORCID record for Alessandra Eva
  • For correspondence: alessandraeva@gaslini.org

Handling Editor: Elaine R. Mardis

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ABSTRACT

Most patients affected by glycogen storage disease type 1a (GSD1a), an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-α (G6Pase-α), develop renal and liver complications, including the development of hepatocellular adenoma/carcinoma. The purpose of this study was to identify potential biomarkers of the pathophysiology of the GSD1a-affected liver. To this end, we used the plasma exosomes of a murine model of GSD1a, the LS-G6pc−/− mouse, to uncover the modulation in microRNA expression associated with the disease. The microRNAs differentially expressed between LS-G6pc−/− and wild-type mice, LS-G6pc−/− mice with hepatocellular adenoma and LS-G6pc−/− mice without adenoma, and LS-G6pc−/− mice with amyloidosis and LS-G6pc−/− mice without amyloidosis were identified. Pathway analysis demonstrated that the target genes of the differentially expressed microRNA were significantly enriched for the insulin signaling pathway, glucose and lipid metabolism, Wnt/β-catenin, telomere maintenance and hepatocellular carcinoma, and chemokine and immune regulation signaling pathways. Although some microRNAs were common to the different pathologic conditions, others were unique to the cancerous or inflammatory status of the animals. Therefore, the altered expression of several microRNAs is correlated with various pathologic liver states and might help to distinguish them during the progression of the disease and the development of late GSD1a-associated complications.

Footnotes

  • Competing interests

    The authors declare no competing or financial interests.

  • Author contributions

    Conceptualization: R.R., D.C., A.E.; Methodology: R.R., D.C., M.M., L.M., F.G.; Validation: D.C., D.S.; Formal analysis: D.C., L.M., F.G., C.B., I.C., A.E.; Investigation: R.R., M.M., D.S., L.M., F.G., M.C.B., C.B., I.C., A.E.; Data curation: R.R., D.C., D.S., M.C.B., A.E.; Writing - original draft: R.R., D.C., C.B., I.C., A.E.; Writing - review & editing: R.R., D.C., M.C.B., C.B., I.C., A.E.; Supervision: A.E.; Project administration: A.E.; Funding acquisition: A.E.

  • Funding

    This work was supported by grants from the Associazione Italiana per la Ricerca sul Cancro (AIRC 2014 Grant IG15461 to A.E.), Associazione Italiana Glicogenosi (to A.E.), Compagnia di San Paolo (Grant 318 to A.E.) and Ministero della Salute (Ricerca Corrente).

  • Data availability

    The raw file from each array card experiment has been deposited at the Gene Expression Omnibus (GEO) public repository at NCBI (http://www.ncbi.nlm.nih.gov) and can be accessed through GEO series accession number GSE157656.

  • Supplementary information

    Supplementary information available online at https://dmm.biologists.org/lookup/doi/10.1242/dmm.043364.supplemental

  • Received November 7, 2019.
  • Accepted June 23, 2020.
  • © 2020. Published by The Company of Biologists Ltd
http://creativecommons.org/licenses/by/4.0

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution and reproduction in any medium provided that the original work is properly attributed.

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Keywords

  • Glycogen storage disease type 1a
  • Hepatocellular adenoma
  • Biomarkers
  • Exosomes
  • Liver
  • MicroRNA

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RESEARCH ARTICLE
Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a
Roberta Resaz, Davide Cangelosi, Martina Morini, Daniela Segalerba, Luca Mastracci, Federica Grillo, Maria Carla Bosco, Cristina Bottino, Irma Colombo, Alessandra Eva
Disease Models & Mechanisms 2020 13: dmm043364 doi: 10.1242/dmm.043364 Published 18 September 2020
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RESEARCH ARTICLE
Circulating exosomal microRNAs as potential biomarkers of hepatic injury and inflammation in a murine model of glycogen storage disease type 1a
Roberta Resaz, Davide Cangelosi, Martina Morini, Daniela Segalerba, Luca Mastracci, Federica Grillo, Maria Carla Bosco, Cristina Bottino, Irma Colombo, Alessandra Eva
Disease Models & Mechanisms 2020 13: dmm043364 doi: 10.1242/dmm.043364 Published 18 September 2020

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