Analysis of Insulin Receptor Gene in Insulin Resistant Diabetes

胰岛素抵抗糖尿病的胰岛素受体基因分析

• 批准号: 63570523
• 负责人: MAKINO Hideichi
• 金额: $ 1.34万
• 依托单位: Chiba University School of Medicine
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for General Scientific Research (C)
• 财政年份: 1988
• 资助国家: 日本
• 起止时间: 1988 至 1989
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-63570523/
• 关键词: Insulin Receptor; Insulin Receptor Gene; Deletion; Insulin Resistance; Diabetes Mellitus; 糖尿病; インスリンレセプター; インスリンレセプター遺伝子; インスリンレセプター異常症; インスリン抵抗性糖尿病

The insulin receptor has an intrinsic tyrosine kinase activity that is essential for signal transduction. A mutant insulin receptor gene lacking almost the entire kinase domain has been identified in an individual with type A insulin resistance and acanthosis nigricans. Insulin binding to the erythrocytes or cultured fibroblasts from this individual was normal. However receptor autophosphorylation and tyrosine kinase activity toward an exogenous substrate were reduced in partially purified insulin receptors from the preband's lymphocytes that had been transformed by Epstein-Barr virus. The insulin resistance associated with this mutated gene was inherited by the proband from her mother as an apparently autosomal dominant trait. Thus a deletion in one allele of the insulin receptor gene may be at least partly responsible for some instances of insulin-resistant diabetes.

胰岛素受体具有信号转导所必需的内在酪氨酸激酶活性。在一个患有A型胰岛素抵抗和黑棘皮病的个体中发现了一种几乎缺乏整个激酶结构域的突变型胰岛素受体基因。胰岛素与该个体红细胞或培养的成纤维细胞的结合是正常的。然而，受体自身磷酸化和酪氨酸激酶活性对外源性底物减少部分纯化的胰岛素受体从preband的淋巴细胞已转化的EB病毒。与此突变基因相关的胰岛素抵抗是由先证者从其母亲遗传的，是一种明显的常染色体显性遗传。因此，胰岛素受体基因的一个等位基因的缺失可能至少部分地导致胰岛素抵抗性糖尿病的某些情况。

项目成果

牧野英一、平良真人、橋本尚武、吉田尚、中村文子: "インスリン受容体異常症タイプC(千葉)、糖尿病学1989(pp.126-148)" 診断と治療社, (1989)

Eiichi Makino、Masato Taira、Naotake Hashimoto、Hisashi Yoshida、Fumiko Nakamura：“C 型胰岛素受体异常（千叶），糖尿病学 1989 年（第 126-148 页）”诊断和 Herosha，（1989 年）

牧野英一,平良真人,橋本尚武,吉田尚,中村文子: "インスリン受容体異常症タイプC(千葉)、糖尿病学 1989" 診断と治療社, pp.126-148 (1989)

Eiichi Makino、Masato Taira、Naotake Hashimoto、Hisashi Yoshida、Fumiko Nakamura：“胰岛素受体异常 C 型（千叶），糖尿病学 1989”诊断与治疗，第 126-148 页（1989 年）

N.Hashimoto,M.Taira,Y.Suzuki,F.Shimada,H.Makino,S.Yoshida: "Defects of insulin receptor kinase in cells of normal insulin binding from women with fami liar insulin resistant diabetes" Submitted.

N.Hashimoto、M.Taira、Y.Suzuki、F.Shimada、H.Makino、S.Yoshida：“患有家族性胰岛素抵抗糖尿病的女性正常胰岛素结合细胞中胰岛素受体激酶的缺陷”已提交。

N. Hashimoto, M. Taira, Y. Suzuki, F. Shimada, H. Makino, S. Yoshida: "Defects of insulin receptor kinase in cells of normal insulin binding from women with familiar insulin resistant diabetes."

N. Hashimoto、M. Taira、Y. Suzuki、F. Shimada、H. Makino、S. Yoshida：“熟悉胰岛素抵抗性糖尿病的女性正常胰岛素结合细胞中胰岛素受体激酶的缺陷。”

N.Hashimoto,M.Taira,Y.Suzuki,F.Shimada,H.Makino,S.Yoshida: "Defects of insulin receptor kinase in cells of normal insulin binding from women with familiar insulin resistant diabetes"

N.Hashimoto、M.Taira、Y.Suzuki、F.Shimada、H.Makino、S.Yoshida：“熟悉胰岛素抵抗性糖尿病的女性正常胰岛素结合细胞中胰岛素受体激酶的缺陷”