Malm D
Institutt for Klinisk Medisin, Universitetet i Tromsø.
Tidsskr Nor Laegeforen. 1998 Mar 10;118(7):1058-61.
The characterisation of the intracellular signal transmission regulating the secretion of insulin from the beta cells of the pancreatic islets has enabled the initiation of massive effort to find the genetic causes of beta cell dysfunction in Type II diabetes. The search for genetic determinants began when several genes involved in the mechanisms of insulin secretion were cloned in the human genoma, and when informative polymorphism was described within or in the vicinity of these genes. The rational approach to identify the putative genes causing diabetes would be to examine genes which encode for proteins likely to be important in the beta cell control of insulin secretion. A large number of mutations which cause Type II diabetes have been found recently. Type II diabetes is therefore probably a heterogenous disease, with a polygenic inheritance of a combination of major and minor genes affecting obesity, insulin secretion, and insulin action. Thus, a genotypic classification of Type II diabetes will eventually be possible, and it might also be possible to explain the sometimes puzzling observations made in diabetes research by the heterogeneity of Type II diabetes and the interaction between environmental and genetic factors.
胰岛β细胞分泌胰岛素的细胞内信号转导机制的阐明,促使人们开始大规模努力寻找II型糖尿病β细胞功能障碍的遗传原因。当参与胰岛素分泌机制的几个基因在人类基因组中被克隆,并且在这些基因内部或附近描述了信息多态性时,对遗传决定因素的探索就开始了。识别可能导致糖尿病的假定基因的合理方法是检查那些编码可能在β细胞胰岛素分泌控制中起重要作用的蛋白质的基因。最近发现了大量导致II型糖尿病的突变。因此,II型糖尿病可能是一种异质性疾病,具有影响肥胖、胰岛素分泌和胰岛素作用的主要和次要基因组合的多基因遗传。因此,最终有可能对II型糖尿病进行基因型分类,并且也有可能通过II型糖尿病的异质性以及环境和遗传因素之间的相互作用来解释糖尿病研究中有时令人困惑的观察结果。