Studies on the gene analysis of patients with Menkes disease and Wilson's disease

• Project/Area Number: 19591221
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Teikyo University
• Principal Investigator: KODAMA Hiroko Teikyo University, 医学部, 教授 (00093386)
• Co-Investigator(Kenkyū-buntansha): FUJISAWA Chie 帝京大学, 医学部, リサーチフェロー (10393000)
• Project Period (FY): 2007 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2009: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000); Fiscal Year 2008: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000); Fiscal Year 2007: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: Menkes病 / Wilson病 / 遺伝子解析 / プロモーター領域 / Menkes / 蛋白質発現 / promoter領域

Research Abstract

The responsible gene for Menkes disease and Wilson's disease are ATP7A and ATP7B, respectively. We analyzed the gene mutations in the responsible gene in 22 patients with Menkes disease and 10 patients with Wilson disease. Mutations in coding regions of the responsible gene were identified in 3 patients with Menkes disease and 2 patients with Wilsn's disease. The gene of copper-chaperon proteins and the promoter genes of the responsible gene for the both disease were analyzed in patients with the both diseases who have no mutation in the responsible genes. A patient with Wilson's disease was suspected to have a mutation in the promoter region in the ATP7B gene.

Research Products

• [Journal Article] Copper Metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment. (2009)
  • Author(s): Kodama H, Fujisawa C.
  • Journal Title: Metallomics. 1 Pages: 42-52
• [Journal Article] Copper Metabolism and inherited copper transport disorders : molecular mechanisms, screening, and treatment (2009)
  • Author(s): Kodama H, Fujisawa C.
  • Journal Title: Metallomics 1 Pages: 42-52
• [Journal Article] Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts (2008)
  • Author(s): Nakagawa T, Inoue Y, Kodama H, Yamazaki H, Kawai K, Suemizu H, Masuda R, Iwazaki M, Ymamada S, Ueyama Y, Inoue H, Nakamura M
  • Journal Title: Oncol Rep. 20(2) Pages: 265-70
• [Journal Article] Expression of copper-transporting P-type adenosine triphosphatase(ATP7B)correlates with cisplatin resistance in human non-small cell lung cancer xenografts. (2008)
  • Author(s): Nakagawa T, Inoue Y Kodama H, Yamazaki H, Kawai K, Suemizu H, Masuda R, Iwazaki M, Ymamada S, Ueyama Y Inoue H, Nakamura M
  • Journal Title: Oncol Rep. 20(2) Pages: 265-70
  • Peer Reviewed
• [Journal Article] DietaryHabits thatProtectChildren fromLifestyle-relatedDiseases : From the perspective of dietary education (2008)
  • Author(s): Kodama H
  • Journal Title: JMAJ 51(5) Pages: 303-309
  • Peer Reviewed
• [Journal Article] Genetic Variation in ATP7B Promoter and 5' UTR in Han Chinese Patients with Wilson's Disease. (2007)
  • Author(s): Gu YH, Gu QJ, Xu SF, Sun HJ, Du SL, Kodama H.
  • Journal Title: Biomed Res Trace Elements 18(3) Pages: 264-268
• [Journal Article] The first reported case of Menkes disease caused by an Alu insertion mutation. (2007)
  • Author(s): Gu Y, Kodama H, Watanabe S, Kikuchi N, Ishitsuka I, Ozawa H, Fujisawa C, Shiga K.
  • Journal Title: Brain Dev. 29(2) Pages: 105-8
  • NAID: 10024134962
• [Journal Article] Direct Analysis of Ceruloplasmin in Human Blood Serum by HPLC/Ind uctively Coupled Plasma-Mass Spectrometry for the Diagnosis of Wilson Disease (2007)
  • Author(s): Kobayashi K, Katsuya Y, Abdulah R, Fujisawa C, Nagamine T, Morikawa A, Murakami M, Kodama H, Koyama H
  • Journal Title: Biomed Res Trace Elements 18(1) Pages: 91-95
  • Peer Reviewed
• [Journal Article] Genetic Variation in ATP7B Promoter and 5'UTR in Han Chinese Patients with Wilson's Disease (2007)
  • Author(s): Gu YH, GU QJ, Xu SF, Sun HJ, Du SL, Kodama H
  • Journal Title: Biomed Res Trace Elements 18(3) Pages: 264-268
  • Peer Reviewed
• [Journal Article] Copper Metabolism and Copper Transport Disorders (2007)
  • Author(s): Kodama H, Fujisawa C, Gu YH, Shiga K
  • Journal Title: Biomed Res Trace Elements 18(3) Pages: 249-254
  • NAID: 10019766046
  • Peer Reviewed
• [Journal Article] Possible associtation of Wilson's disease with hepatocellular carcinoma
  • Author(s): Gu YH, Kodama H, Kato T, Fujisawa C, Kaga F
  • Journal Title: Cell Biology and Toxicology (In press)
  • Peer Reviewed
• [Journal Article] Possible associtation of Wilson's disease with hepatocellular carcinoma
  • Author(s): Gu YH, Kodama H, Kato T, Fujisawa C, Kaga F
  • Journal Title: Cell Biology and Toxicology (In press)
  • Peer Reviewed
• [Presentation] Menkes Diseaseand Wilson's Disease : Update and Challenges (2009)
  • Author(s): Hiroko KODAMA
  • Organizer: AOCCN
  • Place of Presentation: Fukuoka
  • Year and Date: 2009-06-11
• [Presentation] ホモスチン尿症患児で経験した治療方法 (2008)
  • Author(s): 泉陽一, 志賀勝秋, 加賀文彩, 児玉浩子, 大友義之, 新島新一, 柳川幸重
  • Organizer: 第50回日本先天代謝異常学会
  • Place of Presentation: 米子
  • Year and Date: 2008-11-06
• [Presentation] 子どもの肥満・メタボリックシンドロームへの対応 (2008)
  • Author(s): 児玉 浩子
  • Organizer: 第4回いきいき教育セミナー
  • Place of Presentation: 東京
  • Year and Date: 2008-03-20
• [Presentation] 低体重児におけるカルシウム及び骨代謝関連ミネラル・微量元素の必要摂取量に関する研究 (2008)
  • Author(s): 藤澤 千恵、井浦 綾、加賀 文彩、志賀 勝明、坂良 逸、児玉 浩子
  • Organizer: 第5回日本小児栄養研究会
  • Place of Presentation: 奈良
  • Year and Date: 2008-03-01
• [Presentation] Higher copper accumulation, a possible cause for hepatocelluar carcinoma in patients with wilson disease (2008)
  • Author(s): Kodama H, Shiga K, Kaga F, Fujisawa C
  • Organizer: Gu YH Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2008
  • Place of Presentation: Lisboa, Portugal
• [Presentation] Studies on Mutations in ATP7A Gene in Male Patients and a Female Patient with Menkes Disease (2008)
  • Author(s): Hiroko Kodama, Chie Fujisawa, Yag-Hong Gu, Katsuaki Shiga, Fumiaya Kaga.
  • Organizer: The 4th Congress of Asian Society for Plediatric Research
  • Place of Presentation: Hawaii
• [Presentation] Zinc in Child Health and Nutrition-Zinc Deficiency in Babyhood (2008)
  • Author(s): Kodama H, Fujisawa C, Shiga K, Fumiaya K
  • Organizer: The 4th Congress of Asian Society for Plediatric Research
  • Place of Presentation: Hawaii
• [Presentation] Copper and zinc status in the breast milk of mothers with Wilson disease (2008)
  • Author(s): Kaga F, Kodama H, Siga K, Fuiisawa C, Yanakawa Y, Kobayashi K, Koyama H
  • Organizer: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Lisboa, Portugal
• [Presentation] Higher copper accumulation, a possible cause for hepatocelluar carcinom a in patients with wilson disease (2008)
  • Author(s): Kodama H, Shiga K, Kaga F, Fuiisawa C, Gu YH
  • Organizer: Annual Symposium of the Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Lisboa, Portugal
• [Presentation] 大腿骨頭すべり症・慢性甲状腺炎・GH分泌不全型低身長症を合併し、甲状腺ホルモン剤・GH療法を行った1例 (2008)
  • Author(s): 志賀勝秋, 加賀文彩, 望月大史, 児玉
  • Organizer: 第42回日本小児内分泌学会
  • Place of Presentation: 米子
• [Presentation] 新生児マススクリーニングで重症クレチン症と考えられたが自然軽快した甲状腺機能低下症の一例 (2008)
  • Author(s): 望月大史, 児玉浩子, 志賀勝秋, 加賀文彩, 泉陽一, 柳川幸重
  • Organizer: 第42回日本小児内分泌学会
  • Place of Presentation: 米子
• [Presentation] 日常診療に役立つ微量元素の基礎と疾患 (2007)
  • Author(s): 児玉 浩子
  • Organizer: 第10回静岡小児内分泌研究会
  • Place of Presentation: 静岡
  • Year and Date: 2007-09-29
• [Presentation] 日常診療に必要な微量元素の知識 (2007)
  • Author(s): 児玉 浩子
  • Organizer: 第2回埼玉県北部小児疾患研究会
  • Place of Presentation: 埼玉
  • Year and Date: 2007-09-11
• [Presentation] 低出生体重児の血清カルシウム、微量元素の経時的変化 (2007)
  • Author(s): 藤澤 千恵、井浦 綾、太田 久吉、加賀 文彩、志賀 勝秋、坂良 逸、玉井 浩、児玉 浩子
  • Organizer: 第18回日本微量元素学会
  • Place of Presentation: 福井
  • Year and Date: 2007-07-05
• [Presentation] メンケス病の遺伝子解析と母親の保因者率 (2007)
  • Author(s): 小泉亮輔、鎌田和、加賀文彩、志賀勝秋、顧艶紅、藤澤千恵、児玉浩子
  • Organizer: 第11回ウィルソン病研究会
  • Place of Presentation: 東京
  • Year and Date: 2007-05-12
• [Presentation] Identification of ATP7A mutations associated with Menkes disease Chie Fujisawa (2007)
  • Author(s): Hiroko Kodama, Yag-Hong Gu, Katsuaki Shiga
  • Organizer: Fumiaya Kaga International Society For Trace Element Receaarch in Human 2007
  • Place of Presentation: Greece, Crete
• [Presentation] Expectation of a New Therapy for Menkes Disease by Speciation, Metabolomics and Metallomics on Copper (2007)
  • Author(s): Hiroko Kodama, Chie Fujisawa, Yag-Hong Gu, Katsuaki Shiga, Fumiaya Kaga
  • Organizer: International Symposium on Metallomics2007
  • Place of Presentation: Nagoya
• [Presentation] 金属代謝の臨床 (2007)
  • Author(s): 児玉 浩子
  • Organizer: 第3回日本先天代謝異常症学会セミナー
  • Place of Presentation: 東京
• [Presentation] 小児のメタボリックシンドローム (2007)
  • Author(s): 児玉 浩子
  • Organizer: メタボリックシンドローム up to date
  • Place of Presentation: 東京
• [Book] 今日の治療指針 2008年版 (2008)
  • Author(s): 児玉浩子(分担)
  • Publisher: 医学書院
• [Book] 小児科学 (2008)
  • Author(s): 児玉浩子(分担)
  • Total Pages: 3
  • Publisher: メジカルビュー社
• [Book] ミネラルの科学と最新応用技術 (2008)
  • Author(s): 児玉浩子(分担)
  • Total Pages: 10
  • Publisher: シーエムシー出版
• [Book] 小児科学 (2008)
  • Author(s): 児玉浩子(分担)
  • Total Pages: 5
  • Publisher: 医学書院
• [Book] 今日の治療指針 2008年版 (2008)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 1
  • Publisher: 医学書院
• [Book] 小児科学 (2008)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 3
  • Publisher: メジカルビュー社
• [Book] 小児疾患の治療 (2007)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 4
  • Publisher: 中外医学社
• [Book] 疾病の成り立ちと栄養ケア 目で見る臨床栄養学 UPDATE (2007)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 9
  • Publisher: 医歯薬出版株式会社
• [Book] 今日の処方 改訂第4版 (2007)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 10
  • Publisher: 南光堂
• [Book] 小児科診療ガイドライン-最新の診療指針- (2007)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 3
  • Publisher: 総合医学社
• [Book] 今日の診断基準 (2007)
  • Author(s): 児玉 浩子(分担)
  • Total Pages: 4
  • Publisher: 南光堂