1990 Fiscal Year Final Research Report Summary
Molecular Biological Research for Hereditary Retinal Degeneration
| Project/Area Number |
01480413
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| Research Category |
Grant-in-Aid for General Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Ophthalmology
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| Research Institution | Tohoku University |
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Principal Investigator |
TAMAI Makoto Sch. of Med. Dept. of Ophthalmol. Professor and Chairman, 医学部, 教授 (90004720)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAZAWA Mitsuru Sch. of Med. Dept. of Ophthalmol. Assistant Professor, 医学部・附属病院, 講師 (80180272)
NAKAZAWA Mitsuru Sch. of Med. Dept. of Ophthalmol. Assistant Professor (80180272)
NAKAZAWA Mitsuru Sch. of Med. Dept. of Ophthalmol. Assistant Professor (80180272)
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| Project Period (FY) |
1989 – 1990
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| Keywords | Hereditary Retinal Degeneration / Retinitis pigmentosa / Retina specific cDNA clones / Rhodopsin gene / Molecular biology |
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| Research Abstract |
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.
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Research Products
(16 results)
