Exploration of disease-causative and -associated genes and prospect of novel molecular/cellular phenomenon

点击翻译按钮获取中文摘要

Using various techniques based on genomic analysis, we approached the onset mechanism of glaucoma and age-related macular degeneration (AMD) which lead the cause of blindness in Japan. For glaucoma, we newly isolated the proteins which interact with either of myocilin or optineurin. From the known functions of those interacting proteins, involvement of novel phenomenon and cellular function in the development of glaucoma was suggested. For AMD, a rat experimental model of retinal photic injury was employed. Since the susceptibility in the retinal photic injury by irradiation of visible light depended on the rat strain, we performed a genetic analysis to identify the responsible genes. Two loci on rat chromosome 5 and 19 were necessary for the 'susceptible' trait. Cloning of these 2 responsible genes is ongoing to analyze the possible association of their human counterparts on the onset of AMD will be done.