PDF(Pubmed)
Abstract：
The discovery of the insulin hormone over 100 years ago, and its subsequent therapeutic application, marked a key landmark in the history of medicine and medical research. The many roles insulin plays in cell metabolism and growth have been revealed by extensive investigations into the structure and function of insulin, the insulin tyrosine kinase receptor (IR), as well as the signalling cascades, which occur upon insulin binding to the IR. In this review, the insulin gene mutations identified as causing disease and the structural implications of these mutations will be discussed. Over 100 studies were evaluated by one reviewing author, and over 70 insulin gene mutations were identified. Mutations may impair insulin gene transcription and translation, preproinsulin trafficking and proinsulin sorting, or insulin-IR interactions. A better understanding of insulin gene mutations and the resultant pathophysiology can give essential insight into the molecular mechanisms underlying impaired insulin biosynthesis and insulin-IR interaction.
摘要：
100多年前胰岛素激素的发现，及其随后的治疗应用，标志着医学和医学研究历史上的重要里程碑。通过对胰岛素结构和功能的广泛研究，揭示了胰岛素在细胞代谢和生长中的许多作用。胰岛素酪氨酸激酶受体（IR），以及信号级联，在胰岛素与IR结合时发生。在这次审查中,将讨论被鉴定为引起疾病的胰岛素基因突变以及这些突变的结构含义。100多项研究由一位审阅作者评估，并鉴定出超过70个胰岛素基因突变。突变可能损害胰岛素基因转录和翻译，前胰岛素原运输和胰岛素原分选，或胰岛素-IR相互作用。更好地了解胰岛素基因突变和由此产生的病理生理学可以为胰岛素生物合成受损和胰岛素-IR相互作用的分子机制提供必要的见解。
