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Published on: December 22, 2014
Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment
Bin Wen1,2, Shuang Li1, Huirong Li1
1Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, Wenzhou, 325003, China.
Abstract:
Regeneration of the visual pigment by cells of the retinal pigment epithelium (RPE) is fundamental to vision. Here we show that the microphthalmia-associated transcription factor, MITF, which plays a central role in the development and function of RPE cells, regulates the expression of two visual cycle genes, Rlbp1 which encodes retinaldehyde binding protein-1 (RLBP1), and Rdh5, which encodes retinol dehydrogenase-5 (RDH5). First, we found that Rlbp1 and Rdh5 are downregulated in optic cups and presumptive RPEs of Mitf-deficient mouse embryos. Second, experimental manipulation of MITF levels in human RPE cells in culture leads to corresponding modulations of the endogenous levels of RLBP1 and RDH5. Third, the retinal degeneration associated with the disruption of the visual cycle in Mitf-deficient mice can be partially corrected both structurally and functionally by an exogenous supply of 9-cis-retinal. We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE.
Insights
The microphthalmia-associated transcription factor (MITF) controls key genes (RLBP1, RDH5) essential for visual pigment regeneration in retinal pigment epithelium (RPE) cells. MITF deficiency impairs vision, but this can be partially reversed with 9-cis-retinal.
Area of Science:
- Ophthalmology
- Molecular Biology
- Genetics
Background:
- Visual pigment regeneration is crucial for vision, occurring in retinal pigment epithelium (RPE) cells.
- The microphthalmia-associated transcription factor (MITF) is vital for RPE development and function.
Purpose of the Study:
- To investigate the role of MITF in regulating visual cycle genes within RPE cells.
- To determine if MITF influences the expression of RLBP1 and RDH5.
Main Methods:
- Analyzing gene expression of Rlbp1 and Rdh5 in Mitf-deficient mouse embryos.
- Manipulating MITF levels in cultured human RPE cells.
- Assessing the structural and functional effects of 9-cis-retinal in Mitf-deficient mice.
Main Results:
- Rlbp1 and Rdh5 were downregulated in Mitf-deficient mouse embryos.
- MITF levels directly modulated RLBP1 and RDH5 expression in human RPE cells.
- Supplementation with 9-cis-retinal partially corrected vision defects in Mitf-deficient mice.
Conclusions:
- MITF is essential for regulating Rlbp1 and Rdh5 expression in the RPE.
- MITF plays a significant role in retinoid processing within the RPE, impacting visual function.
