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Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene

机译：胰岛素基因突变导致的新生儿糖尿病的临床和分子遗传学

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Over the last decade our insight into the causes of neonatal diabetes has greatly expanded. Neonatal diabetes was once considered a variant of type 1 diabetes that presented early in life. Recent advances in our understanding of this disorder have established that neonatal diabetes is not an autoimmune disease, but rather is a monogenic form of diabetes resulting from mutations in a number of different genes encoding proteins that play a key role in the normal function of the pancreatic beta-cell. Moreover, a correct genetic diagnosis can affect treatment and clinical outcome. This is especially true for patients with mutations in the genes KCNJ11 or ABCC8 that encode the two protein subunits (Kir6.2 and SUR1, respectively) of the ATP-sensitive potassium channel. These patients can be treated with oral sulfonylurea drugs with better glycemic control and quality of life. Recently, mutations in the insulin gene (INS) itself have been identified as another cause of neonatal diabetes. In this article, we review the role of INS mutations in the pathophysiology of neonatal diabetes.
机译：在过去的十年中，我们对新生儿糖尿病成因的了解已大大扩展。新生儿糖尿病曾经被认为是生命早期出现的1型糖尿病的变体。我们对这种疾病的理解的最新进展已经确定，新生儿糖尿病不是一种自身免疫性疾病，而是一种单基因形式的糖尿病，其原因是编码蛋白质的许多不同基因发生突变，这些蛋白质在胰腺的正常功能中起关键作用β细胞。此外，正确的遗传诊断会影响治疗和临床结果。对于基因KCNJ11或ABCC8突变且编码ATP敏感钾通道的两个蛋白质亚基（分别为Kir6.2和SUR1）的患者，尤其如此。这些患者可以接受口服磺酰脲类药物治疗，具有更好的血糖控制和生活质量。最近，胰岛素基因（INS）本身的突变已被确定为新生儿糖尿病的另一原因。在本文中，我们回顾了INS突变在新生儿糖尿病的病理生理中的作用。

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