| Research Abstract |
To elucidate the key factor(s) for the onset and progression of familial amyloiodtic polyneuropathy (FAP), the following inivestigations were performed by our group members, such as neurologists, ophthalmologists, and gastroenterologists. For our investigations, totally 15 doctors visited Umea, Skelfetea, Pitea, and Biske. 1. Examinations of phenotypes of FAP and life styles of thir daily life in Swedish and Japanese FAP patients. 2. Measurements of levels of various trace elements in drinks, river and pond waters. In Swedish FAP patients, not only the onset of polyneuroapthy, but also ocular manifestations were later by 20 years and clinical manifestations were milder than those in Japanese patients. In electric myographic studies, Swedish FAP patients showed severer axonal changes in the peripheral sensoly nerves. In trance elements study, Asn levels in drinks and river and pond waters were significantly higher than those in Japan. However, in vitro amyloid formation study, Asn showed no significant effect on amyloid formation. Using DNA samples of Swedish and Japanese patients, haplotype study were performed. Interestingly, the genotype of Swedish FAP patients was a little bit different from that of Japanese patients. According the life style studies, intake amount of yogurt in Swedish FAP patients were much more higher than that of Japanese FAP patients, suggesting that intestinal flowla may be quite different in Swedish and Japanese FAP patients. Such studies may give a clue for elucidating amyloid formation mechanism of FAP. More long term studies should be performed in the worldwide.
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