Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7

Giovanni Luca Romano, Chiara Bianca Maria Platania, Gian Marco Leggio, Sebastiano Alfio Torrisi, Salvatore Giunta, Salvatore Salomone, Michele Purrello, Marco Ragusa, Cristina Barbagallo, Frank J. Giblin, Rosa Mastrogiacomo, Francesca Managò, Maurizio Cammalleri, Francesco Papaleo, Filippo Drago, Claudio Bucolo

Research output: Contribution to journalArticlepeer-review


Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction. We studied dysbindin-1 null mutant mice (Dys−/−) to shed light on retinal neurodevelopment defects in HPS-7. We analyzed the expression of a focused set of miRNAs in retina of wild type (WT), Dys+/− and Dys−/− mice. We also investigated the retinal function of these mice through electroretinography (ERG). We found that miR-101-3p, miR-137, miR-186-5p, miR-326, miR-382-5p and miR-876-5p were up-regulated in Dys−/−mice retina. Dys−/− mice showed significant increased b-wave in ERG, compared to WT mice. Bioinformatic analysis highlighted that dysregulated miRNAs target synaptic plasticity and dopaminergic signaling pathways, affecting retinal functions of Dys−/− mice. Overall, the data indicate potential mechanisms in retinal neurodevelopment of Dys−/− mice, which may have translational significance in HSP-7 patients, both in terms of diagnostic/prognostic biomarkers and novel pharmacological targets.

Original languageEnglish
Article number3972
JournalScientific Reports
Issue number1
Publication statusPublished - Dec 1 2020

ASJC Scopus subject areas

  • General


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