The effect of the Asian-specific polymorphisms on newborn screening of Pompe disease and new diagnostic approaches for the disease.
| Project/Area Number |
23590679
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Laboratory medicine
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| Research Institution | Kumamoto University |
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Principal Investigator |
Okumiya Toshika 熊本大学, 大学院生命科学研究部, 教授 (50284435)
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| Co-Investigator(Renkei-kenkyūsha) |
NAKAMURA KIMITOSHI 熊本大学, 大学院生命科学研究部, 准教授 (30336234)
ENDO FUMIO 熊本大学, 大学院生命科学研究部, 教授 (00176801)
OKUYAMA TORAYUKI 国立成育医療センター, 臨床検査部, 部長 (40177192)
OHOTAKE AKIRA 埼玉医科大学, 医学部小児科学講座, 教授 (00203810)
KUBO TORU 高知大学, 医学部附属病院, 講師 (80325422)
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| Project Period (FY) |
2011-04-28 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2012: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2011: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
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| Keywords | ライソソーム病 / ポンペ病 / 酸性α-グルコシダーゼ / 新生児マススクリーニング / 遺伝子多型 / ハイリスクスクリーニング / 神経・筋疾患 / リソソーム病 / Ⅱ型糖原病 / 酸性マルターゼ / 血液濾紙 / 新生児スクリーニング / 酸性α－グルコシダーゼ / ポンペ症 / II型糖原病 / ポンぺ病 / 血液露紙 |
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| Outline of Final Research Achievements |
We demonstrated that the high frequency (3.9%) of acid α-glucosidase pseudo-deficiency, c.[1726G>A; 2065G>A] homozygote in Asian populations complicated newborn screening for Pompe disease on dried blood spots. We established Ba/Zn method which can be separated between the pseudodeficiency and true Pompe disease. On the base of Ba/Zn method, we have established newborn screening system and tested about 60,000 Japanese newborns. We identified 10 patient with late-onset Pompe disease. Since all patients were late-onset forms, we established an enzymatic diagnostic system using frozen sections of muscle biopsy from neuromuscular diseases who did not undergo definitive diagnosis, and we now are doing high risk screening with the diagnostic system.
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Report
(6 results)
Research Products
(34 results)
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[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots2011
Author(s)
Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T
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Journal Title
Molecular Genetics & Metabolism
Volume: 103
Issue: 1
Pages: 12-17
DOI
Related Report
Peer Reviewed
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