Shih David Q, Stoffel Markus
Laboratory of Metabolic Diseases, Rockefeller University, 1230 York Avenue, Box 292, New York, NY 10021, USA.
Curr Diab Rep. 2002 Apr;2(2):125-34. doi: 10.1007/s11892-002-0071-9.
Maturity-onset diabetes of the young (MODY) are monogenic forms of type 2 diabetes that are characterized by an early disease onset, autosomal-dominant inheritance, and defects in insulin secretion. Genetic studies have identified mutations in at least eight genes associated with different forms of MODY. The majority of the MODY subtypes are caused by mutations in transcription factors that include hepatocyte nuclear factor (HNF)-4 alpha, HNF-1 alpha, PDX-1, HNF-1 beta, and NEURO-DI/BETA-2. In addition, genetic defects in the glucokinase gene, the glucose sensor of the pancreatic beta cells, and the insulin gene also lead to impaired glucose tolerance. Biochemical and genetic studies have demonstrated that the MODY genes are functionally related and form an integrated transcriptional network that is important for many metabolic pathways.
青年发病的成年型糖尿病（MODY）是2型糖尿病的单基因形式，其特征为疾病发病早、常染色体显性遗传以及胰岛素分泌缺陷。遗传学研究已鉴定出至少八个与不同形式MODY相关的基因中的突变。大多数MODY亚型是由转录因子中的突变引起的，这些转录因子包括肝细胞核因子（HNF）-4α、HNF-1α、PDX-1、HNF-1β和NEURO-DI/BETA-2。此外，葡萄糖激酶基因（胰腺β细胞的葡萄糖传感器）和胰岛素基因中的遗传缺陷也会导致糖耐量受损。生化和遗传学研究表明，MODY基因在功能上相关，并形成一个对许多代谢途径都很重要的整合转录网络。
