1995 Fiscal Year Final Research Report Summary
A MOLECULAR GENETIC STUDY OF RETINAL DEGENERATION
| Project/Area Number |
06454499
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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 | KAGOSHIMA UNIVERSITY |
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Principal Investigator |
OHBA Norio KAGOSHIMA UNIVERSITY FACULTY OF MEDICINE,PROFESSOR, 医学部, 教授 (50010070)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAO Kumiko Kagoshima University FACULTY OF MEDICINE,RESEARCH ASSOCIATE, 医学部, 助手 (30217658)
SAMESHIMA Munefumi Kagoshima University FACULTY OF MEDICINE,RESEARCH ASSOCIATE, 医学部, 助手 (80041333)
UNOKI Kazuhiko Kagoshima University FACULTY OF MEDICINE,ASSISTANT PROFESSOR, 医学部, 講師 (60193926)
ISASHIKI Yasushi Kagoshima University FACULTY OF MEDICINE,ASSOCIATE PROFESSOR, 医学部, 助教授 (70168160)
UEHARA Fumiyuki Kagoshima University FACULTY OF MEDICINE,ASSOCIATE PROFESSOR, 医学部, 助教授 (30168653)
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| Project Period (FY) |
1994 – 1995
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| Keywords | Retinal degeneration / Molecular genetics / Genetic diagnosis / Norrie disease / Mitochondrial disease / HTLV-I |
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| Research Abstract |
Clinical and molecular genetic studies were carried out to elucidate the pathomechanism of a diverse group of retinal degeneration. The followings are the summary of research results.
To study rescue effects of survival-promoting agents on light-induced retinal degeneration in rats and mice, the experimental animals were pretreated with intravitreous injection of midkine, bFGF or other neurotrophic agents, which showed a remarkable prevention of delay of retinal pathologies and visual functional maintenance. The rescue of photoreceptors was associated with reduced disorganization of photoreceptor inner segment ribosomes.
Molecular genetic studies of various diseases presenting with retinal degeneration revealed mutations in disease-causing genes. Noticeably, novel mutations were found in Norrie disease gene in four Japanese families with the disease, two families showed nonsense mutation at the initiation codon of the exon 2, one family had missense mutation at the codon 95 of exon 3, and one family illustrated probable tandem duplication of the gene, concluding that the disease is caused by a heterogenous group of mutations in the disease-causing gene. Also, a mutation at nucleotide position 3243 of mitochondrial gene was found in a patient with proliferative diabetic retinopathy, who showed isolated diabetes mellitus without any other neurologic disease. Rhodopsin gene was normal in Oguchi disease, but incidentally a new polymorphism was observed in the gene.
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