• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Nature >Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)
【24h】

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)

机译：青年成熟型糖尿病患者肝细胞核因子-4α基因的突变（MODY1）

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

The disease maturity-onset diabetes of the young (MODY) is a genetically heterogeneous monogenic form of non-insulin-dependent (type 2) diabetes mellitus (NIDDM), characterized by early onset, usually before 25 years of age and often in adolescence or childhood, and by autosomal dominant inheritance. It has been estimated that 2-5% of patients with NIDDM may have this form of diabetes mellitus. Clinical studies have shown that prediabetic MODY subjects have normal insulin sensitivity but suffer from a defect in glucose-stimulated insulin secretion, suggesting that pancreatic beta-cell dysfunction rather than insulin resistance is the primary defect in this disorder. Linkage studies have localized the genes that are mutated in MODY on human chromosomes 20 (MODY1), 7 (MODY2) and 12 (MODY3), with MODY2 and MODY3 being allelic with the genes encoding glucokinase, a key regulator of insulin secretion, and hepatocyte nuclear factor-1alpha (HNF-1alpha), a transcription factor involved in tissue-specific regulation of liver genes but also expressed in pancreatic islets, insulinoma cells and other tissues. Here we show that MODY1 is the gene encoding HNF-4alpha (gene symbol, TCF14), a member of the steroid/thyroid hormone receptor superfamily and an upstream regulator of HNF-1alpha expression.
机译：年轻人的疾病成熟发作型糖尿病（MODY）是非胰岛素依赖型（2型）糖尿病（NIDDM）的遗传异源单基因形式，其特征是发病较早，通常在25岁之前，通常在青春期或童年，并由常染色体显性遗传。据估计，NIDDM患者中有2％到5％患有这种形式的糖尿病。临床研究表明，糖尿病前期MODY患者具有正常的胰岛素敏感性，但存在葡萄糖刺激的胰岛素分泌缺陷，这表明该疾病的主要缺陷是胰岛β细胞功能障碍而非胰岛素抵抗。连锁研究已将MODY中突变的基因定位在人类20号染色体（MODY1），7号染色体（MODY2）和12号染色体（MODY3）上，其中MODY2和MODY3与编码葡萄糖激酶，胰岛素分泌的关键调节剂和肝细胞的基因等位核因子-1α（HNF-1alpha），一种转录因子，参与肝脏基因的组织特异性调节，但也表达于胰岛，胰岛素瘤细胞和其他组织中。在这里，我们显示MODY1是编码HNF-4alpha（基因符号，TCF14）的基因，是类固醇/甲状腺激素受体超家族的成员，也是HNF-1alpha表达的上游调节子。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号