Abstract
Maturity onset diabetes of the young (MODY) denotes a group of disorders characterized by an autosomal dominant mode of inheritance. MODY presents in children, adolescents or young adults and may account for up to 5% of diabetes cases. Genes mutated in MODY include 5 transcription factors and the metabolic enzyme glucokinase; apart from their involvement in the function of pancreatic beta cells, these genes also have several unexpected common ties. Herein, we review evidence from recent studies that suggests important roles for MODY genes in the control of beta-cell metabolic pathways and cell fate. These findings underscore the special roles of metabolism and apoptosis in the beta cell, but also highlight the emerging concept of a critical metabolic/apoptotic axis. In addition to providing valuable insight into the pathophysiology of MODY, recent studies offer clues to the causes of more common polygenic forms of type 2 diabetes.
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