Recent advances in the genetics of maturity-onset diabetes of the young and other forms of autosomal dominant diabetes

Abstract

Much effort has been dedicated during the last decade to the identification of genes for maturity-onset diabetes of the young and other forms of autosomal dominant diabetes. The study of this monogenic syndrome has led to the identification of several genes that were not previously suspected to play a role in glucose homeostasis. All these genes code for transcription factors that are expressed in beta-cells, where they play a crucial role in cellular differentiation and metabolism. Work is in progress to define the exact role of these genes in glucose homeostasis, and to understand whether they are also involved in common type 2 diabetes. It is estimated that many other genes for these forms of diabetes remain to be discovered. Finding these loci will provide critical knowledge for identifying those cellular pathways that are involved in insulin secretion and action, with crucial implications for studies of the etiology of type 2 diabetes and the development of drugs to treat this disorder.