• The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

      Molina‐Ramírez, Leslie P.; orcid: 0000-0001-7573-6846; Burkitt‐Wright, Emma MM.; Saeed, Haroon; orcid: 0000-0002-2624-0518; McDermott, John H.; orcid: 0000-0002-5220-8837; Kyle, Claire; Wright, Ronnie; Campbell, Christopher; Bhaskar, Sanjeev S.; Taylor, Algy; Dutton, Laura; et al. (2021-07-05)
    • Transcriptomic Profile Reveals Deregulation of Hearing-Loss Related Genes in Vestibular Schwannoma Cells Following Electromagnetic Field Exposure

      Colciago, Alessandra; orcid: 0000-0001-6281-514X; email: alessandra.colciago@unimi.it; Audano, Matteo; orcid: 0000-0003-2791-4526; email: Matteo.Audano@unimi.it; Bonalume, Veronica; orcid: 0000-0002-1185-2351; email: veronica.bonalume@unimi.it; Melfi, Valentina; orcid: 0000-0001-5289-9618; email: valentina.melfi@unimi.it; Mohamed, Tasnim; email: tasnim.mohamed@unimi.it; Reid, Adam J.; orcid: 0000-0003-1752-3302; email: Adam.Reid@manchester.ac.uk; Faroni, Alessandro; orcid: 0000-0003-4435-6423; email: alessandro.faroni@manchester.ac.uk; Greer, Peter A.; email: greerp@queensu.ca; Mitro, Nico; orcid: 0000-0002-5000-3619; email: nico.mitro@unimi.it; Magnaghi, Valerio; orcid: 0000-0002-6903-7042; email: valerio.magnaghi@unimi.it (MDPI, 2021-07-20)
      Hearing loss (HL) is the most common sensory disorder in the world population. One common cause of HL is the presence of vestibular schwannoma (VS), a benign tumor of the VIII cranial nerve, arising from Schwann cell (SC) transformation. In the last decade, the increasing incidence of VS has been correlated to electromagnetic field (EMF) exposure, which might be considered a pathogenic cause of VS development and HL. Here, we explore the molecular mechanisms underlying the biologic changes of human SCs and/or their oncogenic transformation following EMF exposure. Through NGS technology and RNA-Seq transcriptomic analysis, we investigated the genomic profile and the differential display of HL-related genes after chronic EMF. We found that chronic EMF exposure modified the cell proliferation, in parallel with intracellular signaling and metabolic pathways changes, mostly related to translation and mitochondrial activities. Importantly, the expression of HL-related genes such as NEFL, TPRN, OTOGL, GJB2, and REST appeared to be deregulated in chronic EMF exposure. In conclusion, we suggest that, at a preclinical stage, EMF exposure might promote the transformation of VS cells and contribute to HL.