2002 Fiscal Year Final Research Report Summary
Identification of genes related to susceptibility of periodontal diseases and establishment of gene diagnosis
| Project/Area Number |
12470468
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Periodontal dentistry
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
WATANABE Hisashi Depl. of Hard Tissue Engineering (Periodontology), Graduate School, Associate Professor, 大学院・医歯学総合研究科, 助教授 (40143606)
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| Co-Investigator(Kenkyū-buntansha) |
ARAKAWA Shinichi Dental School Hospital, Research Associate, 歯学部附属病院, 助手 (20302888)
NOGUCHI Kazuyuki Dept. of Hard Tissue Engineering (Periodontology), Graduate School, Research Associate, 大学院・医歯学総合研究科, 助手 (90218298)
HAGIWARA Satsuki Dental School Hospital, Lecturer, 歯学部附属病院, 講師 (70134715)
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| Project Period (FY) |
2000 – 2002
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| Keywords | Molecular diagnosis / Hypophosphatasia / Periodontal Disease / Point mutation / DNA expression vector / Tissue non-specific alkaline phosphatase / Mutant gene / COS-1 cell |
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| Research Abstract |
Hypophosphatasia (HOPS) is a clinically heterogeneous heritable disorder characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity and premature loss of deciduous teeth. In a previous study, we found novel point mutations (F310L, V365I) in the TNSALP gene of a patient with severe periodontitis and childhood HOPS (J Periodontol, 1999). The V365I mutation was considered responsible for the inactive alkaline phosphatase (ALP) enzyme (J Bone Miner Res, 2002). We have characterized another ALP enzyme translated from the mutant F310L and compared it with the ALP in the patient's serum in the presenl study.
The COS-1 cells transfected with the F310L and co-transfected with F310L and V365I exhibited a level of 67% and 31%, respectively with the enzymatic activity of the wild-type taken as 100%. After heating at 56℃ for 5 min, the residual activity of the wild-type, F310L and V365I exhibited a level of approximately 40.4%, 21.7% and 16.5% of unheated enzymatic activily, respectively. The ALP of patient's serum showed levamisol-nonresistant and heat labile as well as mutant ALP. This mutant might be responsible for the expression of symptoms of the childhood-type HOPS, in addition lo the mutant (V3651).
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[Publications] Watanabe, H., Goseki-Sone, M., Orimo, H., Hamatani, R., Takinami, H., Ishikawa, I.: "Function of Mutant (G1144A) Tissue-Nonspecific ALP Gene from Hypophosphatasia"Journal of Bone Mineral Research. 17・11. 1945-1948 (2002)
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「研究成果報告書概要(和文)」より
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[Publications] Goseki-Sone, M., Orimo, H., Watanabe, A., Hamatani, R., Yokozeki, M., Ohyama, K., Kuroda, T., Watanabe, H., Miyazaki, H., Shimada, T., Oida, S.: "Identification of a novel frameshift mutation (383insT) in the RUNIX2 (PEBP2α/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia"Journal of Bone and Mineral Metabolism. 19. 263-266 (2001)
Description
「研究成果報告書概要(和文)」より
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