| Co-Investigator(Kenkyū-buntansha) |
SUZUKI Yukihiko Hirosaki University, School of Medicine, Department of Ophthalmology, Instructor, 医学部・附属病院, 助手 (40292148)
OHKURO Hiroshi Hirosaki University, School of Medicine, Department of Ophthalmology, Assistant Professor, 医学部, 講師 (30203748)
ISHIGURO Seiichi Hirosaki University, School of Agriculture and Bioscience Department of Cell Technology, Professor, 農学生命科学部, 教授 (20111271)
|
|---|
| Research Abstract |
Retinitis pigmentosa is a complex of hereditary retinal degenerations that is nominated as the third commonest cause of blindness in adult population in Japan with the incidence of 1 out of 5,000 people, and therefore is an important disease in terms of measures against blindness. The present study was designed to clarify parts of molecular mechanisms of pathogenesis of retinitis pigmentosa and its allied diseases and to obtain some clues for establishment of treatment for these diseases. This year, as the last term of periods of the research, we, first of all, had continued research project of molecular diagnosis of patients with these diseases focusing on some candidate genes such as peripherin/RDS, GCAP2, and RDH5 genes. As a esult, we have identified a novel mutation of the peripherin/RDS gene causing autosomal dominant central areolar choroidal dystrophy, and novel missense mutation in the GCAP2 gene found in 2 families with autosomal dominant retinitis pigmentosa. Moreover, we successfully observed a long term fundus changes of a patient with Fundus Albipunctatus associated with a novel mutation in the RDH5 gene. In summary, we have obtained new findings in the relationship between genotypes and phenotypes. As the second part of the study, we investigated the effect of Ca antagonist, nilvadipine, on the retinal degeneration of RCS (Royal College of Surgeons rat) histopathologically, electrophisiologically, and molecular biologically. Although we first designed to use rds mouce for treatment study, it was difficult to obtain rds mice and therefore we changed research focus from rds mice to RCS rats. As a result, a pro filing study of gene expression using DNA tip indicated that administration of nilvidipine changed expressions of many genes in the retina toward the condition in which apoptosis was inhibited. We believe that this result provides new possibility for the treatment of retinitis pigmentosa.
|
