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

门克斯病和威尔逊病患者的基因分析研究

• 批准号: 19591221
• 负责人: KODAMA Hiroko
• 金额: $ 2.83万
• 依托单位: Teikyo University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2007
• 资助国家: 日本
• 起止时间: 2007 至 2009
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-19591221/
• 关键词: 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

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.

门克斯病和威尔逊病的致病基因分别是 ATP7A 和 ATP7B。我们分析了 22 名门克斯病患者和 10 名威尔逊病患者的相关基因的基因突变。在 3 名门克斯病患者和 2 名威尔森病患者中发现了相关基因编码区的突变。在负责基因没有突变的这两种疾病的患者中分析了铜伴侣蛋白的基因和这两种疾病的负责基因的启动子基因。一名患有威尔逊氏病的患者被怀疑在 ATP7B 基因的启动子区域存在突变。

项目成果

Higher copper accumulation, a possible cause for hepatocelluar carcinoma in patients with wilson disease

较高的铜积累可能是威尔逊病患者发生肝细胞癌的原因

• 发表时间: 2008
• 作者: Kodama H;Shiga K;Kaga F;Fujisawa C
• 通讯作者: Fujisawa C

Studies on Mutations in ATP7A Gene in Male Patients and a Female Patient with Menkes Disease

男性和女性门克斯病患者ATP7A基因突变的研究

• 发表时间: 2008
• 作者: Hiroko Kodama;Chie Fujisawa;Yag-Hong Gu;Katsuaki Shiga;Fumiaya Kaga.
• 通讯作者: Fumiaya Kaga.

ホモスチン尿症患児で経験した治療方法

儿童同型尿症的治疗方法经验

• 发表时间: 2008
• 作者: 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
• 通讯作者: 柳川幸重

Higher copper accumulation, a possible cause for hepatocelluar carcinom a in patients with wilson disease

较高的铜积累可能是威尔逊病患者发生肝细胞癌的原因

• 发表时间: 2008
• 作者: Kodama H;Shiga K;Kaga F;Fuiisawa C;Gu YH
• 通讯作者: Gu YH

小児疾患の治療

儿童疾病的治疗

• 发表时间: 2007
• 作者: Carr JA;van der Walt PE;Nakayama J;Fu YH;Corfield V;Brink P;Ptacek L.;児玉 浩子(分担);Carr JA;児玉 浩子(分担);児玉 浩子(分担)
• 通讯作者: 児玉 浩子(分担)