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ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Cancer Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1433116

Serums miR-24-3p and miR-1301-3p as potential biomarkers in MEN1 syndrome

Provisionally accepted
Simone Donati Simone Donati 1Cinzia Aurilia Cinzia Aurilia 1Francesca Marini Francesca Marini 2Francesca Giusti Francesca Giusti 3Gaia Palmini Gaia Palmini 2Irene Falsetti Irene Falsetti 1Federica Cioppi Federica Cioppi 3Teresa Iantomasi Teresa Iantomasi 1Francesco Tonelli Francesco Tonelli 2Maria Luisa Brandi Maria Luisa Brandi 2*
  • 1 Department of Experimental and Clinical Biomedical Sciences, University of Florence, Firenze, Italy
  • 2 Fondazione FIRMO Onlus; Italian Foundation for the Research on Bone Diseases, Firenze, Italy
  • 3 Metabolic Bone Diseases Unit, Careggi University Hospital, Florence, Tuscany, Italy

The final, formatted version of the article will be published soon.

    Context: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome caused by inactivating mutations of the MEN1 gene and characterized by the occurrence of multiple endocrine tumors within a single patient (i.e., parathyroid, pituitary, and pancreatic neuroendocrine tumors (NETs)).However, the lack of a genotype-phenotype correlation does not allow individual disease evolution to be foreseen. Epigenetic factors, such as microRNAs, are suspected to contribute to MEN1 tumorigenesis, presumably explaining the lack of genotype-phenotype association. Our previous studies have indicated miR-24-3p, miR-1301-3p, miR-664a-3p, and miR-4258 as potentially involved in MEN1 parathyroid tumorigenesis.Objective and Design: In this study, we examined the expression of two circulating microRNAs (c-miRNAs), miR-24-3p and miR-1301-3p, in the serum of MEN1 patients.Patients: c-miRNAs were evaluated by RT-qPCR in serum collected from 25 MEN1 patients and 25 ageand gender-matched healthy volunteers (HCs). Receiver operating characteristic (ROC) curves were constructed to determine miRNA sensitivity and specificity.Results: RT-PCR analysis revealed that expression levels of circulating miR-1301-3p were significantly downregulated, while those of miR-24-3p were significantly upregulated in the serum of MEN1 patients compared to HCs. Additionally, ROC analysis exhibited a good diagnostic power for both miRNAs (area under the ROC curve (AUC) values: 0.7356 and 0.7928 for miR-1301-3p and miR-24-3p, respectively) in distinguishing MEN1 patients from matched HCs.Discussion: These preliminary data suggest circulating miR-1301-3p and miR-24-3p as potential noninvasive diagnostic biomarkers for MEN1 syndrome, regardless of different clinical phenotypes and MEN1 mutation types.

    Keywords: Multiple Endocrine Neoplasia Type 1, epigenetics, non-coding RNA, Circulating microRNA, Neuroendocrine Tumors, biomarkers

    Received: 15 May 2024; Accepted: 03 Sep 2024.

    Copyright: © 2024 Donati, Aurilia, Marini, Giusti, Palmini, Falsetti, Cioppi, Iantomasi, Tonelli and Brandi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Maria Luisa Brandi, Fondazione FIRMO Onlus; Italian Foundation for the Research on Bone Diseases, Firenze, Italy

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