プリン代謝異常の遺伝子解析(遺伝医学の最近の進歩,シンポジウム)

概要

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Genetic disorders of nucleic acids include purine and pyrimidine metabolism abnormalities and the abnormalities of the metabolism of nucleic acids. Recently, various genetic disorders with increased incidence of neoplasms were found to be caused by deficiencies of helicase, endonuclease etc. Gout is a disorder in which uric acid accumulates in the body. This is because humans lack uric acid catabolizing enzyme, urate oxidase. The gene coding for this enzyme resides in human but at least three critical mutations prevent the gene from being expressed normally. The knock-out mice in which urate oxidase gene was disrupted accumulate uric acid and develop urate nephropathy. Most of the mice die shortly after the birth unless they are treated with allopurinol. Some of the purine metabolic disorders are known to be different between different ethnic groups. Thus, APRT deficiency is more prevalent among Japanese than Europeans while AMPD deficienty is prevalent only among Western people. In both of the cases, single mutations with single origins seem to have spread. In case of PRPP synthetase, the patients reveal with high enzyme activities rather then deficiencies. Even in such cases, missense mutations in the gene coding for the enzyme seem to be the cause of the disease.
東京女子医科大学の論文
1998-05-25