Disease Relevance
The missense mutation in gene rdh5, which codes for microsomal 11-cis-retinol dehydrogenase (RDH5), causes fundus albipunctatus, whose symptoms include retinal white-spot accumulation, stationary night blindness caused by delay in cone and rod photopigment regeneration, and elderly cone dystrophy.
At least 20 mutations in rdh12 gene, which encodes retinol dehydrogenase, can be associated to diseases, including severe and early-onset autosomal recessive retinal dystrophy (arRD), or Leber congenital amaurosis. Patients suffer from cone and rod malfunction since childhood and develop legal blindness when reaching adulthood. This suggests that RDH12 might play a central role in the visual cycle and can be a promising therapeutic target. A possible mechanism of the accelerated degradation among RDH12 mutants is the polyubiquitination by cytosolic ubiquitin ligases and subsequent degradation by proteosome. Its conformation aberration provokes the aforementioned accelerated degradation.
Read more about this topic: Retinol Dehydrogenase
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