[Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)].
Maturity-onset diabetes of the young (MODY) is a monogenic form of non-insulin-dependent diabetes mellitus (NIDDM) characterized by an early age of onset, often in childhood or adolescence and usually < 25 years of age, and autosomal dominant inheritance. Clinical characterization of patients with MODY indicates that impaired insulin secretion is the primary defect responsible for the hyperglycemia in these patients. Genetic studies have thus far identified five MODY susceptibility genes, four of which encode transcription factors; HNF (hepatocyte nuclear factor)-1 alpha, HNF-1 beta, HNF-4 alpha, and IPF1. The association of mutations in the genes for these transcription factors with early-onset familial diabetes indicates the importance of the HNF-regulatory network in determining pancreatic beta-cell function.
Department of Cell Biology, Gunma University.
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Takeda
D000293:Adolescent; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D002648:Child; D002874:Chromosome Mapping; D004268:DNA-Binding Proteins; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000503:physiopathology; D005799:Genes, Dominant; D051537:Hepatocyte Nuclear Factor 1; D051538:Hepatocyte Nuclear Factor 1-alpha; D051539:Hepatocyte Nuclear Factor 1-beta; D051557:Hepatocyte Nuclear Factor 4; D018398:Homeodomain Proteins; D006801:Humans; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D007515:Islets of Langerhans / Q000378:metabolism; D009154:Mutation; D009687:Nuclear Proteins; D010750:Phosphoproteins / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D004268:DNA-Binding Proteins; C496487:HNF1A protein, human; C496495:HNF1B protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051557:Hepatocyte Nuclear Factor 4; D018398:Homeodomain Proteins; D007328:Insulin; C403128:MLX protein, human; D009687:Nuclear Proteins; D010750:Phosphoproteins; D015534:Trans-Activators; D014157:Transcription Factors; C084010:pancreatic and duodenal homeobox 1 protein; D051537:Hepatocyte Nuclear Factor 1; D051539:Hepatocyte Nuclear Factor 1-beta