Genetic basis of maturity-onset diabetes of the young.
Most valuable breakthroughs in the genetics of type 2 diabetes mellitus have arisen from familial linkage analysis of maturity-onset diabetes of the young, an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin-secretion defects. Despite its low prevalence, MODY is not a single entity but presents genetic, metabolic, and clinical heterogeneity. MODY can result from mutations in at least six different genes;one encodes the glycolytic enzyme glucokinase, which is an important glucose sensor, whereas all the others encode transcription factors that participate in a regulatory network essential for adult beta cell function. Additional genes, yet unidentified, may explain the other MODY cases unlinked to a mutation in the known genes.
Vaxillaire
Martine
M
CNRS UMR8090 Unit, Institute of Biology and Pasteur Institute of Lille, 1 rue du Professeur Calmette BP 245 59019, Lille, France. martine.vaxillaire@good.ibl.fr
Froguel
Philippe
P
D017668:Age of Onset; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics*; D005941:Glucokinase / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D014157:Transcription Factors / Q000235:genetics*
D014157:Transcription Factors; D005941:Glucokinase