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

利用基于基因组分析的各种技术，我们探讨了导致日本失明的青光眼和年龄相关性黄斑变性（AMD）的发病机制。对于青光眼，我们新分离的蛋白质相互作用的肌球蛋白或视神经磷酸酶。从这些相互作用蛋白的已知功能，参与青光眼的发展中的新现象和细胞功能的建议。对于AMD，采用视网膜光损伤的大鼠实验模型。由于可见光照射引起的视网膜光损伤的易感性取决于大鼠品系，因此我们进行了遗传分析以确定负责基因。大鼠5号和19号染色体上的两个位点是“易感”性状所必需的。这两个相关基因的克隆正在进行中，以分析其人类对应基因与AMD发病的可能关联。

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.