2010 Fiscal Year Final Research Report
Establishment of newborn screening and molecular basis of chemical chaperone therapy for glycogen storage disease II
| Project/Area Number |
19590563
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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 |
Laboratory medicine
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| Research Institution | Kumamoto University |
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Principal Investigator |
OKUMIYA Toshika Kumamoto University, 大学院・生命科学研究部, 准教授 (50284435)
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| Co-Investigator(Renkei-kenkyūsha) |
TANASE Sumio 熊本大学, 大学院・生命科学研究部, 教授 (20112401)
SAKURABA Hitoshi 明治薬科大学, 教授 (60114493)
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| Research Collaborator |
REUSER Arnold JJ オランダ王国・エラスムス大学, 臨床遺伝学講座, 准教授
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| Project Period (FY) |
2007 – 2010
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| Keywords | リソソーム病 / ポンペ病 / 酸性α-グルコシダーゼ / 新生児スクリーニング / 遺伝子多型 / 化学シャペロン / 小胞体関連分解 |
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| Research Abstract |
We demonstrated that the high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G>A ; 2065G>A] homozygote (AA homozygote), in Asian populations complicated newborn screening for glycogen storage disease type II on dried blood spots, since AA homozygotes have a considerably low enzyme activity. We have searched for a method to effectively eliminate hemoglobin in the reaction solution. Hemoglobin precipitation with barium hydroxide and zinc sulfate (Ba/Zn method) carried out after the enzyme reaction considerably enhances the fluorescence intensity. The Ba/Zn method greatly improved the separation between Japanese patients with Pompe disease and unaffected AA homozygotes in the assay on blood spots.
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Research Products
(16 results)
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[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.2011
Author(s)
Shigeto S, Katafuchi T, Okada O, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FV, Reuser AJ, Okumiya T.
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Journal Title
Mol. Genet. Metab. in press
Peer Reviewed
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