Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7.

ABSTRACT: 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 m

SUBMITTER: Romano GL 

PROVIDER: S-EPMC7055265 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature