| Budget Amount *help |
¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1986: ¥500,000 (Direct Cost: ¥500,000)
Fiscal Year 1985: ¥800,000 (Direct Cost: ¥800,000)
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| Research Abstract |
1. The development of method in early stage of porphyria. I established a method of simultaneaus measurement of urinary, pheripheral blood, and fecal porphyrins by high-performance liquid chromatography. This method can be used as a routine method for mass screening of diagnosis in patients with porphyria.
2. The mechanism of abnormalities of porphyrin metabolism in four types of porphyria with photodermatological manifestation.
Approximately 60 cases in porphyrias obtained were subjected to the clinical and biological investigations, in which the activities of five enzymes out from the eight heme biosynthetic enzymes and also the content of porphyrins and two precursors, ALA and PBG in the bioptic materials from liver, bone marrow and peripheral blood were determined. Several methods and experimental techniques were newly devised or developed during this study.
Hepatic ALA dehydratase activity in PCT patients were markedly decreased. Summarizing the present experiments on ALA dehydratase enzyme, the decrease activity to be caused by a decreased in the enzyme protein. From the present rat experiments, it was found that alcohol, estrogen and hexachlorobenzene treated rats showed no change in hepatic ALA dehydratase activity compared to controls, postulating an enzymatic discrepancy between PCT patients and experimental PCT.
Two cases that markedly decreased of erythrocyte URO'gen decarboxylase activity was found in PCT patients.
The enzymes activities and porphyrin metabolites of heme biosynthesis were determined in 15 patients in EPP, 6 cases of VP and 7 cases of CP. As the results, ALA synthase activity was found to be markedly increased in VP. Furthermore, author made a basic data for diagnosis of porphyrias.
3. The clinical statistics in porphyrias. All the cases of porphyria ever reported in Japan were collected and subjected to clinical statistics and epidemiological observation in order to summarize the current informations about porphyrias in Japan.
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