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

• 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
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥19,630,000 (Direct Cost: ¥15,100,000、Indirect Cost: ¥4,530,000); Fiscal Year 2014: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2013: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2012: ¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000); Fiscal Year 2011: ¥6,110,000 (Direct Cost: ¥4,700,000、Indirect Cost: ¥1,410,000)
• Keywords: 糖鎖 / 糖タンパク質 / 先天性代謝異常症 / 代謝異常 / 質量分析 / グライコプロテオミクス / 糖タンパク / プロテオーム / 診断

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.

Research Products

• [Journal Article] Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation (2015)
  • Author(s): 17.Kodera H, Ando N, Yuasa I, Wada Y, Tsurusaki Y, Nakashima M, Miyake N, Saitoh S, Matsumoto N, Saitsu H
  • Journal Title: Clin Genet Volume: 87 Issue: 5 Pages: 455-460
  • DOI: 10.1111/cge.12417
  • Peer Reviewed
• [Journal Article] Transferrin variants: Pitfalls in the diagnostics of Congenital disorders of glycosylation (2015)
  • Author(s): 18.Zühlsdorf A, Park JH, Wada Y, Rust S, Reunert J, DuChesne I, Grüneberg M, Marquardt T
  • Journal Title: Clin Biochem Volume: 1-2 Issue: 1-2 Pages: 11-13
  • DOI: 10.1016/j.clinbiochem.2014.09.022
  • Peer Reviewed
• [Journal Article] The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation (2014)
  • Author(s): 16.Park JH, Zühlsdorf A, Wada Y, Roll C, Rust S, Du Chesne I, Grüneberg M, Reunert J, Marquardt T.
  • Journal Title: Clin Chim Acta Volume: 436C Pages: 135-139
  • DOI: 10.1016/j.cca.2014.05.011
  • Peer Reviewed
• [Journal Article] Chondroitin sulfate proteoglycan tenascin-R regulates glutamate uptake by adult brain astrocytes (2014)
  • Author(s): Okuda H, Tatsumi K, Morita S, Shibukawa Y, Korekane H, Horii-Hayashi N, Wada Y, Taniguchi N, Wanaka A.
  • Journal Title: J Biol Chem Volume: 289 Issue: 5 Pages: 2620-2631
  • DOI: 10.1074/jbc.m113.504787
  • Peer Reviewed / Open Access
• [Journal Article] Multiple phenotypes in phosphoglucomutase 1 deficiency (2014)
  • Author(s): Tegtmeyer LC, et al.
  • Journal Title: N Engl J Med Volume: 370 Issue: 6 Pages: 533-542
  • DOI: 10.1056/nejmoa1206605
  • Peer Reviewed
• [Journal Article] Interlaboratory Study on Differential Analysis of Protein Glycosylation by Mass Spectrometry: the ABRF Glycoprotein Research Multi-Institutional Study 2012 (2013)
  • Author(s): Leymarie N, et al.
  • Journal Title: Mol Cell Proteomics Volume: 12 Issue: 10 Pages: 2935-2951
  • DOI: 10.1074/mcp.m113.030643
  • Peer Reviewed
• [Journal Article] Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction (2013)
  • Author(s): Koehler K, et al.
  • Journal Title: Am J Hum Genet Volume: 93 Issue: 4 Pages: 727-734
  • DOI: 10.1016/j.ajhg.2013.08.002
  • Peer Reviewed
• [Journal Article] De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy (2013)
  • Author(s): Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S, Kato M, Okamoto N, Iai M, Kondo Y, Nishiyama K, Tsurusaki Y, Nakashima M, Miyake N, Hayasaka K, Sugahara K, Yuasa I, Wada Y, Matsumoto N, Saitsu H.
  • Journal Title: Hum Mutat Volume: 34 Issue: 12 Pages: 1708-1714
  • DOI: 10.1002/humu.22446
  • Peer Reviewed
• [Journal Article] Decreased sialylation of IgA1 O-glycans associated with pneumococcal hemolytic uremic syndrome (2013)
  • Author(s): Aoki H, Shiomi M, Ikeda T, Ishii T, Shimizu N, Togawa M, Okamoto N, Kadoya K, Wada Y.
  • Journal Title: Pediatr Int Volume: 55 Issue: 6
  • DOI: 10.1111/ped.12166
  • Peer Reviewed
• [Journal Article] Suppression of heregulin beta signaling by single N-glycan deletion mutant of soluble ErbB3 (2013)
  • Author(s): Takahashi M, Hasegawa Y, Ikeda Y, Wada Y, Tajiri M, Ariki S, Takamiya R, Nishitani C, Araki M, Yamaguchi Y, Taniguchi N, Kuroki Y.
  • Journal Title: J Biol Chem Volume: 288 Issue: 46 Pages: 32910-32921
  • DOI: 10.1074/jbc.m113.491902
  • Peer Reviewed
• [Journal Article] Deficiency of N-acetylgalactosamine in O-linked oligosaccharides of IgA is a novel biologic marker for inflammatory bowel diseases. (2012)
  • Author(s): InoueT, Miyoshi E, et al.
  • Journal Title: IBD Journal Volume: 18(9) Issue: 9 Pages: 1723-34
  • DOI: 10.1002/ibd.22876
  • Peer Reviewed
• [Journal Article] Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of α-dystroglycan (2012)
  • Author(s): Kuga A
  • Journal Title: J Biol Chem Volume: 287 Issue: 12 Pages: 9560-9567
  • DOI: 10.1074/jbc.m111.271767
  • Peer Reviewed
• [Journal Article] N-Glycans of SREC-I(scavenger receptorexpressed by endothelial cells): Essential role for ligand binding, traffickingand stability (2012)
  • Author(s): Sano, M., Korekane, H., Ohtsubo, K., Yamaguchi, Y., Kato, M., Shibukawa, Y., Tajiri, M., Adachi, H., Wada, Y., Asahi, M. and Taniguchi, N
  • Journal Title: Glycobiology Volume: 22 Issue: 5 Pages: 714-724
  • DOI: 10.1093/glycob/cws010
  • Peer Reviewed
• [Journal Article] Brd2 is required for cell cycle exit and neuronal differentiation through the E2F1 pathway in mouse neuroepithelial cells. (2012)
  • Author(s): Mami Tsume, et al.
  • Journal Title: Biochemical and Biophysical Research Communications Volume: 425 Issue: 4 Pages: 762-768
  • DOI: 10.1016/j.bbrc.2012.07.149
  • Peer Reviewed
• [Journal Article] Label-Free Analysis of O-glycosylation Site-Occupancy Based on the Signal Intensity of Glycopeptide/Peptide Ions (2012)
  • Author(s): Wada Y
  • Journal Title: Mass Spectrometry Volume: 1 Issue: 2 Pages: A0008-A0008
  • DOI: 10.5702/massspectrometry.A0008
  • NAID: 10031126345
  • ISSN: 2186-5116, 2187-137X
  • Peer Reviewed
• [Journal Article] Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal reces sive cutis laxa type-2(ARCL2) patient (2012)
  • Author(s): Wada Y, Kadoya M, Okamoto N
  • Journal Title: Glycobiology Volume: 22 Issue: 8 Pages: 1140-1144
  • DOI: 10.1093/glycob/cws086
  • Peer Reviewed
• [Journal Article] O-glycosylated IgA rheumatoid factor induces IgA deposits and glomerulonephritis (2012)
  • Author(s): Otani M, Nakata J, Kihara M, Leroy V, Moll S, Wada Y, Izui S
  • Journal Title: J Am Soc Nephrol Volume: 23 Issue: 3 Pages: 438-446
  • DOI: 10.1681/asn.2011070701
  • Peer Reviewed
• [Journal Article] Infrared matrix-assisted laser desorption/ionization mass spectrometry for quantification of glycosaminoglycans and gangliosides (2011)
  • Author(s): Tajiri M, Wada Y
  • Journal Title: Int.J.Mass Spectrom. Volume: 305 Issue: 2-3 Pages: 164-169
  • DOI: 10.1016/j.ijms.2010.10.029
  • Peer Reviewed
• [Presentation] Mass Spectrometric Screening of Congenital Disorders of Glycosylation in Japan (2014)
  • Author(s): Yoshinao Wada
  • Organizer: ASMS 30th Asilomar Conference on Mass Spectrometry, Advances in Glycomics and Glycoproteomics: Methods and Applications
  • Place of Presentation: Asilomar, CA, USA
  • Year and Date: 2014-10-10 – 2014-10-14
• [Presentation] Mass spectrometric screening of congenital disorders of glycosylation (2014)
  • Author(s): Yoshinao Wada
  • Organizer: 5th Asia Oseania Mass Spectrometry Conference & the 33rd Chinese Mass spectrometry Society Annual Conference
  • Place of Presentation: Beijing, China
  • Year and Date: 2014-07-15 – 2014-07-19
  • Invited
• [Presentation] 可溶型ErbB3糖鎖欠損変異体とラパチニブのヘレグリンシグナル抑制作用における相乗効果 (2013)
  • Author(s): 高橋素子，長谷川喜弘，有木茂，高宮里奈，和田芳直，田尻道子，黒木由夫
  • Organizer: 第86回日本生化学会大会
  • Place of Presentation: 横浜
• [Presentation] The More than Sixty-Year History of Mass Spectrometry in Japan (2013)
  • Author(s): Yoshinao Wada
  • Organizer: 61st Conference on Mass Spectrometry and Allied Topics
  • Place of Presentation: ミネアポリス(米国)
  • Invited
• [Presentation] Ion Mobility Mass Spectrometry of IgG Fc Glycopeptides from Different Subclasses (2013)
  • Author(s): Michiko Tajiri, Feifei Zhu, Maissa M. Gaya, Yoshinao Wada, David E. Clemmer
  • Organizer: 61st Conference on Mass Spectrometry and Allied Topics
  • Place of Presentation: ミネアポリス(米国)
• [Presentation] 糖ペプチドのイオンモビリティー質量分析と分子力学法を用いたコンフォメーション探索 (2013)
  • Author(s): 田尻道子，竹内孝江，Feifei Zhu，Maissa M. Gaya，本郷やよい，中村健道，廣瀬賢治，David E. Clemmer，和田芳直
  • Organizer: 第61回質量分析総合討論会
  • Place of Presentation: つくば
• [Presentation] Ion mobility mass spectrometry and MM conformational search of glycopeptides (2013)
  • Author(s): Michiko Tajiri, Takae Takeuchi, Yoshinao Wada
  • Organizer: 5th JCS International Symposium on Theoretical Chemistry
  • Place of Presentation: 奈良
• [Presentation] 可溶型ErbB受容体によるヘレグリンシグナル抑制機構 (2012)
  • Author(s): 高橋素子、長谷川喜弘、西谷千明、有木茂、和田芳直、田尻道子、黒木由夫
  • Organizer: 第85回日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 2012-12-16
• [Presentation] 細胞融合制御因子カルポニン3の生理的役割の解明 (2012)
  • Author(s): 渋川幸直、山崎奈津子、大門江津子、木村-吉田千春、持田京子、松尾勲、和田芳直
  • Organizer: 第85回日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 2012-12-15
• [Presentation] GAPDHのTransglutaminase 2依存的脱アミド化によるBeWo細胞の細胞融合 (2012)
  • Author(s): 岩井香織、渋川幸直、山崎奈津子、角谷真智子、和田芳直
  • Organizer: 第85回日本生化学会大会
  • Place of Presentation: 福岡
  • Year and Date: 2012-12-15
• [Presentation] プロゲステロン刺激によって脱落膜化する子宮内膜細胞株の樹立 (2012)
  • Author(s): 中村織江、和田芳直
  • Organizer: 第27回日本免疫学会総会
  • Place of Presentation: 大阪
  • Year and Date: 2012-12-08
• [Presentation] 糖ペプチドのMALDI MSによるO型糖鎖付加率の算定とその応用 (2012)
  • Author(s): 和田芳直, 角谷真知子
  • Organizer: 第37回日本医用マススペクトル学会年会
  • Place of Presentation: 名古屋
  • Year and Date: 2012-10-25
• [Presentation] Electron transfer dissociation of protonated disulfide linked peptides and analogs without S-S bond (2012)
  • Author(s): Shigeo Hayakawa, Shinya Matsumoto, Michisato Toyoda, Yasushi Shigeri, Michiko Tajiri, Yoshinao Wada
  • Organizer: 19^<th> International Mass Spectrometry Conference
  • Place of Presentation: 京都
  • Year and Date: 2012-09-20
• [Presentation] Ion mobility mass spectrometry of IgG Fc glycopeptides from different subclasses (2012)
  • Author(s): Michiko Tajiri, Yayoi Hongo, Takemichi Nakamura, Kenji Hirose, Yoshinao Wada
  • Organizer: 19^<th> International Mass Spectrometry Conference
  • Place of Presentation: 京都
  • Year and Date: 2012-09-19
• [Presentation] Evaluation of Pt-deposited Porous Alumina Target Plate with MALDI Spiral-TOFMS (2012)
  • Author(s): Takafumi Sato, Kanae Teramoto, Yoshihisa Ueda, Tomohiko Tamura, Moriyuki Hamada, Ken-Ichiro Suzuki, Yoshinao Wada, Takashi Yanagishita, Hideki Masuda
  • Organizer: 19^<th> International Mass Spectrometry Conference
  • Place of Presentation: 京都
  • Year and Date: 2012-09-17
• [Presentation] 糖タンパク質糖鎖プロファイルからの疾患解析 (2012)
  • Author(s): 和田芳直
  • Organizer: 第8回臨床プロテオーム研究会
  • Place of Presentation: 東京
  • Year and Date: 2012-05-12
• [Presentation] 紫外および赤外レーザーによるマトリックス支援レーザー脱離イオン化MALDIマススペクトルの特徴について (2011)
  • Author(s): 和田芳直
  • Organizer: 日本質量分析学会第58回イオン反応研究会
  • Place of Presentation: 堺(招待講演)
  • Year and Date: 2011-12-03
• [Presentation] O型糖鎖プロファイルの恒常性とその変化要因について (2011)
  • Author(s): 和田芳直
  • Organizer: 第3回臨床メタボロミクス研究会
  • Place of Presentation: 神戸(招待講演)
  • Year and Date: 2011-10-25
• [Presentation] Mass Spectrometry for Clinical Glycoproteomics (2011)
  • Author(s): Wada Y
  • Organizer: The 14th Beijjing Conference and Exhibition on Instrumental Analysis
  • Place of Presentation: 中国北京(招待講演)
  • Year and Date: 2011-10-14
• [Presentation] 糖ペプチドの質量分析がひらく糖鎖生物学 (2011)
  • Author(s): 和田芳直
  • Organizer: バイオ医薬品サミット
  • Place of Presentation: 品川(招待講演)
  • Year and Date: 2011-10-04
• [Presentation] Fc領域IgG糖ペプチドのイオンモビリティー質量分析に見られるサブクラス間相違 (2011)
  • Author(s): 田尻道子、廣瀬賢次、竹内孝江、和田芳直
  • Organizer: 第59回質量分析総合討論会
  • Place of Presentation: 吹田
  • Year and Date: 2011-09-15
• [Presentation] 先天性糖鎖合成不全症の分子診断プログラム(第4報) (2011)
  • Author(s): 和田芳直、角谷真知子、岡本伸彦
  • Organizer: 第36回日本医用マススペクトル学会年会
  • Place of Presentation: 吹田
  • Year and Date: 2011-09-15
• [Presentation] Classical label-free quantitation for glycomics and glycoproteomics (2011)
  • Author(s): Y.Wada
  • Organizer: 2011 Annual meeting of the Korean Society for Mass Spectrometry and the 2nd Asian & Oceanic Mass Spectroemtry Conference
  • Place of Presentation: 釜山(招待講演)
  • Year and Date: 2011-08-19
• [Presentation] Congenital disorder of glycosylation type Icの1女児例 (2011)
  • Author(s): 市川和志、角谷真知子、和田芳直、岡本伸彦
  • Organizer: 第34回日本小児遺伝学会学術集会
  • Place of Presentation: 横浜
  • Year and Date: 2011-08-11
• [Presentation] Fc領域IgG糖ペプチドのイオンモビリティー質量分析にみられるサブクラス間相違 (2011)
  • Author(s): 田尻道子、廣瀬賢治、和田芳直
  • Organizer: 日本プロテオーム学会2011年大会
  • Place of Presentation: 新潟
  • Year and Date: 2011-07-29
• [Presentation] 糖ペプチドのイオンモビリティMS:N型糖鎖とタンパク骨格のアミノ酸依存的相互作用 (2011)
  • Author(s): 田尻道子、廣瀬賢治、和田芳直
  • Organizer: 第38回BMSコンファレンス
  • Place of Presentation: 箱根
  • Year and Date: 2011-07-11
• [Presentation] それでもイメージングMSに紫外レーザーを使いますか? (2011)
  • Author(s): 田尻道子、和田芳直
  • Organizer: 第38回BMSコンファレンス
  • Place of Presentation: 箱根
  • Year and Date: 2011-07-11
• [Presentation] 糖タンパク質糖鎖合成不全症の実態がMSによって明らかにされつつある (2011)
  • Author(s): 和田芳直
  • Organizer: 第38回BMSコンファレンス
  • Place of Presentation: 箱根
  • Year and Date: 2011-07-11
• [Presentation] Ion mobility MS of glycopeptides from the Fc regions of different IgG subclasses (2011)
  • Author(s): Wada Y、Tajiri M、Hirose K
  • Organizer: 58th Conference on Mass Spectrometry and Allied Topics
  • Place of Presentation: デンバー、米国
  • Year and Date: 2011-06-07
• [Presentation] Matrix-assisted laser/desorption ionization using a pulsed infrared laser at 6 μm wavelength (2011)
  • Author(s): Wada Y、Tajiri M
  • Organizer: 国際分析科学会議ICAS2011
  • Place of Presentation: 京都(招待講演)
  • Year and Date: 2011-05-24
• [Presentation] 糖鎖合成不全症にみる糖鎖バイオマーカーへの視点 (2011)
  • Author(s): 和田芳直
  • Organizer: 第61回日本電気泳動学会シンポジウム・第7回日本臨床プロテオーム研究会2011連合大会
  • Place of Presentation: 山口(招待講演)
  • Year and Date: 2011-05-10
• [Book] Mass spectrometry of Glycoproteins (2013)
  • Author(s): Wada Y
  • Total Pages: 339
  • Publisher: springer
• [Book] 現代質量分析学:基礎原理から応用研究まで(DOJIN ACADEMIC SERIES) (2013)
  • Author(s): 高山光男(編集), 瀧浪欣彦(編集), 和田芳直(編集), 早川滋雄(編集)
  • Total Pages: 514
  • Publisher: 化学同人
• [Book] 先天代謝異常症diagnosis at a glance (2011)
  • Author(s): 和田芳直
  • Total Pages: 172
  • Publisher: 診断と治療社
• [Remarks] 研究内容（大阪府立母子保健総合医療センター 研究所・代謝部門）
  • URL: http://www.mch.pref.osaka.jp/research/molecular/content.html
• [Remarks]
  • URL: http://www.much.pref.osaka.jp/laboratory/metabolism/
• [Remarks]
  • URL: http://www.mch.pref.osaka.jp/sub_about/news/hp_news_cdg.html