Scientific reports · 2020
Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Romano Giovanni Luca, Platania Chiara Bianca Maria, Leggio Gian Marco, Torrisi Sebastiano Alfio, Giunta Salvatore, Salomone Salvatore, Purrello Michele, Ragusa Marco, Barbagallo Cristina, Giblin Frank J, Mastrogiacomo Rosa, Managò Francesca, Cammalleri Maurizio, Papaleo Francesco, Drago Filippo, Bucolo Claudio
Аннотация
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.