Elevation of nucleotide pyrophosphatase activity in skin fibroblasts from patients with Lowe's syndrome |
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| Authors: | H Yoshida S Fukui I Yamashina T Tanaka T Sakano T Usui T Shimotsuji H Yabuuchi M Owada T Kitagawa |
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| Institution: | 1. Department of Biological Chemistry, Faculty of Pharmaceutical Sciences, Kyoto University, Kyoto 606 Japan;2. Department of Pediatrics, School of Medicine, Hiroshima University, Hiroshima 734, Japan;3. Department of Pediatrics, School of Medicine, Osaka University, Osaka 553, Japan;4. Department of Pediatrics, School of Medicine, Nippon University, Tokyo 101, Japan |
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| Abstract: | Undersulfation observed in the glycosaminoglycans synthesized by cultured skin fibroblasts from a Lowe's syndrome patientFukui, S. etal. (1981) J. Biol. Chem. 256, 10313–10318] was found to be caused by elevated degradation of 3′-phosphoadenosine 5′-phosphosulfate (PAPS). The enzyme involved in this degradation was then identified as an enzyme of nucleotide pyrophosphatase (EC 3.6.1.9) nature, cleaving the phosphosulfate linkage. The specific activities were 8 – 24 (mU/mg protein) in patients' fibroblasts, in contrast to 3 in normal and 5 – 14 in heterozygote cells. A possibility is discussed that the elevation of nucleotide pyrophosphatase activity is the primary genetic defect in Lowe's syndrome. |
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| Keywords: | To whom correspondence should be addressed |
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