The effect of the Asian-specific polymorphisms on newborn screening of Pompe disease and new diagnostic approaches for the disease.

2015 Fiscal Year Final Research Report

• Project/Area Number: 23590679
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Laboratory medicine
• Research Institution: Kumamoto University
• Principal Investigator: Okumiya Toshika 熊本大学, 大学院生命科学研究部, 教授 (50284435)
• 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)
• Project Period (FY): 2011-04-28 – 2016-03-31
• 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

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.

Free Research Field

臨床化学、分子遺伝学