Abstract
Tight regulation of the visual response is essential for photoreceptor function and survival. Visual response dysregulation often leads to photoreceptor cell degeneration, but the causes of such cell death are not well understood. In this study, we investigated a fatty acid transport protein (fatp) null mutation that caused adult-onset and progressive photoreceptor cell death. Consistent with fatp having a role in the retina, we showed that fatp is expressed in adult photoreceptors and accessory cells and that its re-expression in photoreceptors rescued photoreceptor viability in fatp mutants. The visual response in young fatp-mutant flies was abnormal with elevated electroretinogram amplitudes associated with high levels of Rhodopsin-1 (Rh1). Reducing Rh1 levels in rh1 mutants or depriving flies of vitamin A rescued photoreceptor cell death in fatp mutant flies. Our results indicate that fatp promotes photoreceptor survival by regulating Rh1 abundance.
Highlights
Retinal degeneration is a major health concern that affects one in 2000 people worldwide [1]
The deregulation of the visual response can lead to retinal diseases and blindness
To understand the mechanisms of retinal degeneration, we studied the previously uncharacterized fatty acid transport protein gene in Drosophila
Summary
Retinal degeneration is a major health concern that affects one in 2000 people worldwide (http://www.sph.uth.tmc.edu/Retnet/) [1]. Human retinopathies are heterogeneous in physiopathology and severity, they all involve loss of photoreceptor (PR) neurons, which leads to blindness. The most frequent retinal disease is retinitis pigmentosa, which is caused by mutations in one or more of at least 54 distinct genes (Retnet). The most frequently mutated gene is rhodopsin (rho in mammals) which is mutated in 30–40% of all cases of autosomal dominant retinitis pigmentosa (ADRP) (Retnet) [2]. Rhodopsin is the light-sensitive protein of PRs that activates phototransduction. 100 rho mutations have been identified, and they affect folding, trafficking and activity of the rhodopsin protein. The mechanisms of retinal degeneration remain unclear
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