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首页> 外文期刊>Diabetic medicine: A journal of the British Diabetic Association >Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes.
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Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes.

机译：IAPP和NEUROG3基因的突变并不是永久性新生儿/婴儿期/儿童期糖尿病的常见原因。

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摘要

Permanenteonatal/infancy-onset diabetes is caused by defects in at least 10 different genes, including those encoding for insulin (INS) and the subunits of K_atp channel of the pancreatic B-cell (KCNJ11, ABCC8), which account for most of the cases diagnosed within 6 months of birth in international or national collections [1-3]. Interestingly, mutations in the KCNJ11, ABCC8 and INS genes may be responsible for cases with diabetes onset in childhood and even adulthood [1,2,4-6]. In particular, we and other investigators have screened the INS gene in subjects who were diagnosed with diabetes during infancy/childhood, after selecting them for the absence of five [6] or two Type 1 diabetes autoantibodies [5]. These studies led to the identification of INS mutations in four subjects in whom diabetes was diagnosed between 3 and 13 years of age [5,6]. In addition, we found that INS gene mutations associated with infancy/childhood diabetes determine severe protein misfolding. As a result, mutant insulins are not secreted, causing sustained endoplasmic reticulum (ER)-stress, a process that eventually triggers apoptosis of pancreatic B-cells [2].
机译：永久/新生儿/婴儿期糖尿病是由至少10个不同基因的缺陷引起的，这些基因包括编码胰岛素（INS）和胰腺B细胞K_atp通道亚基（KCNJ11，ABCC8）的基因，这些基因占大多数在国际或国家馆藏中在出生后6个月内诊断出的病例[1-3]。有趣的是，KCNJ11，ABCC8和INS基因的突变可能与儿童甚至成年后糖尿病发作有关[1,2,4-6]。特别是，我们和其他研究人员在为婴儿/儿童期诊断为糖尿病的受试者中选择了不存在5种[6]或2种1型糖尿病自身抗体[5]之后，对INS基因进行了筛选。这些研究导致在3到13岁之间被诊断出糖尿病的4名受试者中INS突变的鉴定[5,6]。此外，我们发现与婴儿期/儿童糖尿病相关的INS基因突变决定了严重的蛋白质错误折叠。结果，不分泌突变型胰岛素，导致持续的内质网（ER）应激，该过程最终引发胰腺B细胞凋亡[2]。

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