Glycoproteomic reasearch to reveal the frequency and diversity of the Congenital Disorders of Glycosylation

2014 Fiscal Year Final Research Report

• Project/Area Number: 23390081
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pathological medical chemistry
• Research Institution: Research Institute, Osaka Medical Center for Maternal and Child Health
• Principal Investigator: WADA Yoshinao 地方独立行政法人大阪府立病院機構大阪府立母子保健総合医療センター(研究所), その他部局等, 研究所長 (00250340)
• Co-Investigator(Kenkyū-buntansha): TAJIRI Michiko 大阪府立母子保健総合医療センター(研究所), 代謝部門, 流動研究員 (70581312) ; SHIBUKAWA Yukinao 大阪府立母子保健総合医療センター(研究所), 代謝部門, 主任研究員 (90393264)
• Project Period (FY): 2011-04-01 – 2015-03-31
• Keywords: 糖鎖 / 糖タンパク質 / 先天性代謝異常症

Outline of Final Research Achievements

A new mass spectrometric method for the diagnosis of congenital disorders of glycosylation (CDG) has been developed. The method effectively analyzed various types of CDG in international collaboration studies. A screening of CDG started in 2005 has found 11 families of CDG out of 1053 developmental delay patients of unknown cause. The incidence was approximately one percent in the Japanese cohort.

Free Research Field

生化学