2007 Fiscal Year Final Research Report Summary
Novel Mutations of the GLA Gene in Japanese Patients with Fabry disease and their functional characterization by active site specific chaperone
| Project/Area Number |
18590884
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Kidney internal medicine
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| Research Institution | Niigata University |
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Principal Investigator |
MARUYAMA Hiroki Niigata University, Graduate School of Medical and Dental Sciences Specially, Appointed Professor (10293218)
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| Project Period (FY) |
2006 – 2007
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| Keywords | Fabry disease / chaperone / DGJ / Renal failure / α-galactosidase A |
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| Research Abstract |
Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of the α-galactosidase A gene (GLA). Mutation hotspots for Fabry disease do not exist. We examined 72 Fabry patients in Japan and found 26 GLA mutations, including 11 novel ones. A potential treatment reported for Fabry disease is active site specific chaperone (ASSC) therapy using 1-deoxygalactonojirimycin (DGJ), an inhibitor of α-galactosidase A, at subinhibitory concentrations. We transfected COS-7 cells with the 26 mutant GLAs and analyzed the a-galactosidase A activities. We then treated the transfected COS-7 cells with DGJ and analyzed its effect on the mutant enzyme activities. The activity of 11 missense mutants increased significantly with DGJ. Although ASSC therapy is useful only for misfolding mutants and therefore not applicable to all cases, it may be useful for treating many Japanese patients with Fabry disease.
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Research Products
(49 results)
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[Journal Article] Novel Mutations of the GLA Gene in Japanese Patients with Fabry disease and their functional characterization by active site specific chaperone2008
Author(s)
M. Shimotori, H. Maruyama, G. Nakamura, T. Suyama, F. Sakamoto, M. Itoh, S. Miyabayashi, T. Ohnishi, N. Sakai, M. Wataya-Kaneda, M. Kubota, T. Takahashi, T. Mori, K. Tamura, S. Kageyama, N. Shio, T. Maeba, H. Yahagi, M. Tanaka, M. Oka, H. Sugiyama, T. Sugawara, N. Mori, H. Tsukamoto, K. Tamagaki, S. Tanda, Y. Suzuki, C. Shinonaga, J. Miyazaki, S. Ishii, F. Gejyo
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Journal Title
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Longitudinal change in renal function in patients with idiopathic dilated cardiomyopathy without renal insufficiency at initial diagnosis2007
Author(s)
K. Tanaka, M. Ito, M. Kodama, H. Maruvama, M. Hoyano, W. Mitsuma, N. Iino, S. Hirono, Y. Okura, F. Gejyo, N. Tanabe, Y. Aizawa
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Journal Title
Circ. J 71
Pages: 1927-1931
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Hydrodynamic-based delivery of an interleukin-22-Ig fusion gene ameliorates experimental autoimmune myocarditis in rats2006
Author(s)
H. Chang, H. Hanawa, H. Liu, T. Yoshida, M. Hayashi, R. Watanabe, S. Abe, K. Toba, K. Yoshida, R. Elnaggar, S. Minagawa, Y. Okura, K. Kato, M. Kodama, H. Maruvama, J. Miyazaki, Y. Aizawa
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Journal Title
J. Immunol 15
Pages: 3635-3643
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Attenuation of mouse acute colitis by naked hepatocyte growth factor gene transfer into the liver2006
Author(s)
T. Hanawa, K. Suzuki, Y. Kawauchi, M. Takamura, H. Yoneyama, GD. Han, H. Kawachi, F. Shimizu, H. Asakura, JI. Miyazaki, H. Maruyama, Y. Aoyagi
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Journal Title
J. Gene Med 8
Pages: 623-635
Description
「研究成果報告書概要(欧文)」より
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