mRNA Analysis of Oguchi Patients with the Frequent 1147delA Mutation in the Arrestin Gene

Arrestin is a 45 KDa protein and is mainly located in the membrane of photoreceptor rod cells and pineal gland. It is well known that 1147delA nutation in the arrestin gene causes Oguchi disease and autosomal recessive retinitis pigmentosa in Japanese patients. We examined expression of arrestin in mRNA isolated from whole blood cells of patients with Oguchi disease, who had the 1147delA mutation in the arrestin gene. Arrestin was expressed at the level of mRNA in all of three patients with Oguchi disease. mRNA from Oguchi patients did not have the same 1147delA mutation as was seen in the arrestin gene but had the normal sequence. The result indicated the possibility of RNA editing in blood cells in our patients.