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Brothers, B. A.

Publications and source records attributed to Brothers, B. A..

2 recordsLinked to original sources

Super-resolution microscopy reveals a Rab6a-dependent trafficking hub for rhodopsin at the mammalian rod photoreceptor Golgi

Rod photoreceptor stability is critical for retinal health and lifelong vision. The proper intracellular trafficking of the photopigment receptor rhodopsin (Rho) is essential for normal rod homeostasis, as Rho mislocalization precedes rod cell death in inherited retinal disorders such as retinitis pigmentosa. Despite its importance, the molecular mechanisms of Rho trafficking in mammalian rods remain largely undefined. In this study, we combined multiple Rho-labeling strategies with super-resolution microscopy to investigate the subcellular organization of Rho in the Golgi complex of mammalian rods. Using stochastic optical reconstruction microscopy (STORM) and structured illumination microscopy (SIM) super-resolution imaging modalities, we mapped the localization of Golgi proteins with Rho in mouse and macaque rods and found that Rho specifically colocalizes with Rab6a in the trans-Golgi. To test the functional significance of this interaction, we utilized a dominant-negative Rab6a mutant in both HEK293T cells and mouse rods. We demonstrated that the dominant negative Rab6a significantly inhibits Rho secretion in cell culture, causing intracellular retention. In mouse rods, we found that this mutant similarly causes significant Rho retention in the trans-Golgi. However, surprisingly, a majority of Rho protein still escaped the Golgi and reached the outer segment. Together, these findings uncover critical new subcellular details about Rho organization at the Golgi and establish a role for Rab6a as a regulator of Rho protein release from the trans-Golgi in mammalian rods. Our results provide critical insight into the protein trafficking mechanisms that must be sustained and regulated in mammalian rods for long-term retinal health.

cell biology↗

Molecular Mechanisms Limiting the Therapeutic Window of AAV Gene Therapy in Mouse Models of Blue Cone Monochromacy

Blue cone monochromacy (BCM) is an X-linked retinal disorder caused by mutations in the OPN1LW/OPN1MW gene locus, resulting in impaired cone function and structural degeneration. We conducted a comparative analysis of AAV-mediated gene therapy in Opn1lw/Opn1mw double knockout (DKO) and Opn1mwC198R/Opn1sw-/- (C198R) BCM mouse models and evaluated the therapeutic window, efficacy, and longevity. Our results demonstrate that the AAV8-Y733F capsid achieved superior cone rescue compared to AAV5. While both DKO and C198R models showed similar therapeutic windows and rescue longevity, treatment efficacy decreased markedly in older mutant mice. Structural analysis revealed that aged cones in both models displayed degenerative changes, including mislocalized mitochondria and compromised connecting cilia. At the molecular level, we observed reduced AAV-mediated transgene expression in DKO and C198R older cones, which may result from decreased transduction efficiency, decreased circular episome stability, genome-wide transcription/translation downregulation, targeted mRNA/protein degradation, or overall cone degeneration. Notably, the cone-specific promoters for Pde6c and Cngb3 maintained robust activity in degenerating cones. These findings suggest that combining an efficient AAV serotype with an optimized cone promoter could be a viable approach to extend the therapeutic window and enhance treatment longevity for BCM patients.

molecular biology↗