advertisement
Abstract #98900 Published in IGR 22-4
Long-term vitamin a supplementation in a preclinical mouse model for RhoD190N-associated retinitis pigmentosa
Cui X; Kim HJ; Cheng CH; Jenny LA; De Carvalho Junior JRL; Chang YJ; Kong Y; Hsu CW; Huang IW; Huang IW; Ragi SD; Lin CS; Li X; Sparrow JR; Tsang SHHuman Molecular Genetics 2022; 31: 2438-2451
Retinitis pigmentosa is caused by one of many possible gene mutations. The National Institutes of Health (NIH) recommends high daily doses of vitamin A palmitate for retinitis pigmentosa (RP) patients. There is a critical knowledge gap surrounding the therapeutic applicability of vitamin A to patients with the different subtypes of the disease. Here, we present a case report of a patient with RP caused by a p.D190N mutation in Rhodopsin (RHO) associated with abnormally high quantitative autofluorescence values after long-term vitamin A supplementation. We investigated the effects of vitamin A treatment strategy on RP caused by the p.D190N mutation in RHO by exposing RhoD190N/+ and wild-type (WT) mice to experimental vitamin A-supplemented and standard control diets. The patient's case suggests that the vitamin A treatment strategy should be further studied to determine its effect on RP caused by p.D190N mutation in RHO and other mutations. Our mouse experiments revealed that RhoD190N/+ mice on the vitamin A diet exhibited higher levels of autofluorescence and lipofuscin metabolites compared to WT mice on the same diet and isogenic controls on the standard control diet. Vitamin A supplementation diminished photoreceptor function in RhoD190N/+ mice while preserving cone response in WT mice. Our findings highlight the importance of more investigations into the efficacy of clinical treatments like vitamin A for patients with certain genetic subtypes of disease and of genotyping in the precision care of inherited retinal degenerations.
Full article
