{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T04:01:19Z","timestamp":1778644879567,"version":"3.51.4"},"reference-count":42,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:00:00Z","timestamp":1748476800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Bando Ricerca Salute 2018\u2014a regional public call for research and development projects aimed at supporting clinical and organizational innovation processes of the regional health service\u2014Regione Toscana"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Brugada syndrome (BrS) is a cardiac disease associated with characteristic ECG abnormalities and a heightened risk of sudden cardiac death, especially in young individuals with structurally normal hearts. The primary aim of this study was to highlight, for the first time, the potential of using droplet digital PCR (ddPCR), a highly sensitive method, to detect C-type natriuretic peptide (CNP) and its receptors, NPR-B and NPR-C, expression in BrS. Whole-blood samples from 12 subjects with type 1 BrS and 12 controls were analyzed. CNP expression was detectable and lower in BrS patients than in the controls, although not significantly. NPR-B and NPR-C expression was significantly reduced in the same patients (p \u2264 0.05). Strong correlations were observed between CNP and NPR-B (p = 0.01) and NPR-C (p &lt; 0.0001), as well as between NPR-B and NPR-C (p = 0.0002). Body weight correlated with CNP (p = 0.02), NPR-B (p = 0.03), and NPR-C (p = 0.02); meanwhile, NPR-B expression was related to height (p = 0.05). This study is the first to analyze CNP expression and its specific receptors using ddPCR technology, showing for the first time their presence and activation in individuals with BrS. Although further research is needed to clarify CNP-related mechanisms, these findings offer a valuable starting point for exploring its role in BrS.<\/jats:p>","DOI":"10.3390\/biom15060792","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T06:25:04Z","timestamp":1748499904000},"page":"792","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Optimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital\u2122 PCR: Advancing Biomarker Discovery for Brugada Syndrome?"],"prefix":"10.3390","volume":"15","author":[{"given":"Manuela","family":"Cabiati","sequence":"first","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, 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Monasterio, 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnese","family":"Sgalippa","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy"},{"name":"Health Science Interdisciplinary Center, Sant\u2019Anna School of Advanced Studies, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2659-026X","authenticated-orcid":false,"given":"Antonella","family":"Cecchettini","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy"},{"name":"Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7919-3759","authenticated-orcid":false,"given":"Gianluca","family":"Solarino","sequence":"additional","affiliation":[{"name":"University Cardiology Division, Versilia Hospital, 55041 Lido di Camaiore, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7274-4541","authenticated-orcid":false,"given":"Giulio","family":"Zucchelli","sequence":"additional","affiliation":[{"name":"Second Division of Cardiology, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorenzo","family":"Mazzocchetti","sequence":"additional","affiliation":[{"name":"Second Division of Cardiology, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0740-0464","authenticated-orcid":false,"given":"Pasquale","family":"Notarstefano","sequence":"additional","affiliation":[{"name":"Cardiovascular and Neurological Department, San Donato Hospital, 52100 Arezzo, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Letizia","family":"Guiducci","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Aurora","family":"Morales","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7163-245X","authenticated-orcid":false,"given":"Silvia","family":"Del Ry","sequence":"additional","affiliation":[{"name":"Laboratory of Biochemistry and Molecular Biology, CNR Institute of Clinical Physiology, Via Giuseppe Moruzzi 1, 56124 Pisa, Italy"},{"name":"Health Science Interdisciplinary Center, Sant\u2019Anna School of Advanced Studies, 56100 Pisa, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"102566","DOI":"10.1016\/j.cpcardiol.2024.102566","article-title":"Brugada phenocopy vs. Brugada syndrome: Delineating the differences for optimal diagnosis and management","volume":"49","author":"Adytia","year":"2024","journal-title":"Curr. 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