| Project/Area Number |
08457214
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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 |
Circulatory organs internal medicine
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| Research Institution | Kagoshima University |
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Principal Investigator |
KANZAKI Tamotsu (1997) Kagoshima University faculty of Medicine, Professor, 医学部, 教授 (80118801)
田中 弘允 (1996) 鹿児島大学, 医学部, 学長 (80041292)
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| Co-Investigator(Kenkyū-buntansha) |
NAKAO Shoichiro Kagoshima University faculty of Medicine, Associate Professor, 医学部, 助教授 (90155664)
TANAKA Hiromitsu Kagoshima University President, 医学部, 学長 (80041292)
神崎 保 鹿児島大学, 医学部, 教授 (80118801)
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| Project Period (FY) |
1996 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥6,800,000 (Direct Cost: ¥6,800,000)
Fiscal Year 1997: ¥2,200,000 (Direct Cost: ¥2,200,000)
Fiscal Year 1996: ¥4,600,000 (Direct Cost: ¥4,600,000)
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| Keywords | Fabry disease / alpha-galactosidase / left ventricular hypertrophy / gene mutation / 心ファブリー / ベクター / 遺伝子治療 |
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| Research Abstract |
As basic research for genetic therapy of cardiac Fabry disease, it is imprtant to select suitable target cells and vectors. We will assess endotheral cells of small vesels and capillary and other oragn cells as target cells. Before basic study of genetic therapy we have to clarify the phenotype and genotype in Fabry disease including in atypical type of Fabry disease which manifestaions limited to the heart. The atypical Fabry disease was named cardiac Fabry disease by us. We deteced cardiac Fabry disease of three percent among male patients with left ventricular hypertrophy. They did not have angiokeratoma, hypohidrosis, acroparesthesias, or corneal opacities. They had new mutations of A20P,E66Q,and M296I by gene analysis. We tried to find undiagnosed patients with Fabry disease among male patients undergoing chronic hemodialysis by measuring plasma alpha-galactosidase. Six of the 514 male patients were found as having Fabry disease, and they had no angiokeratoma except one. By gene analysis new mutations of A97V and G373D were detected. The phenotype and genotype of these Fabry disease who were newly found in Kagoshima and Miazaki Prefectures were different from those of classical Fabry disese. We think that the genotype and phenotype should be clarified in the futher study to select the target cells and vectors.
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