|Budget Amount *help
¥6,500,000 (Direct Cost : ¥6,500,000)
Fiscal Year 1990 : ¥3,200,000 (Direct Cost : ¥3,200,000)
Fiscal Year 1989 : ¥3,300,000 (Direct Cost : ¥3,300,000)
Hereditary retinal degeneration is a group of disorders, whose causes have been obscure. Because of the unknown nature, we have not had effective modalities of treatment. Many ophthalmic researchers have ever studied this group of disorders by means of morphologic, biochemical or physiological methods. However, because the essential abnormalities of these disorders are in genes which we have not fully understood yet, we have not known the pathogenesis of these diseases. Since most patients with these diseases show symptomes and abnormal findings only in the retinochoroidal region while other parts of the body are within normal range, proteins specifically produced within the retina are suspected to be genetically altered.
In order to obtain clues to understand genetic nature of the hereditary retinal degeneration, cDNA clones for retina specific proteins were examined. As the first step, cDNA clones for rhodopsin, Irbp, Cralbp, transducin (alpha-subunit), retinal S-antigen and 33kDa protein were obtained and transfeccted into E. coli JM109. Also, experiments were prepared for isolation of novel cDNA clones for some of unknown retina specific proteins.
As the second step of this project, genomic DNA's from patients with retinitis pigmentosa were examined with a particular interest on the rhodopsin gene using polymerase chain reaction and restriction fragment length polymorphism. As a result, two cases of the same pedigree with autosomal dominant retinitis pigmentosa was found to have a point mutation in the rhodopsin gene, suggesting that rhodopsin gene could be related to the pathogenesis of a certain kind of retinitis pigmentosa.