Maturity onset diabetes of the young - Rattus norvegicus (rat)
About 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MODY).
We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcription factors: HNF4alpha (MODY1), HNF1alpha (MODY3), PDX1 (MODY4), HNF1beta (MODY5) and NEUROD1 (MODY6). MODY2, which is so far the only subtype not related to a transcription factor, is caused by mutations in the glucokinase gene. Mutations of MODY transcription factor genes lead to abnormal expression of genes involved in pancreatic islet development and metabolism.
Human Diseases; Endocrine and metabolic disease
Maturity onset diabetes of the young
Rattus norvegicus (rat) [GN:
Hhex; hematopoietically-expressed homeobox protein HHEX [KO:
Mnx1; motor neuron and pancreas homeobox protein 1 [KO:
Onecut1; hepatocyte nuclear factor 6 [KO:
Pdx1; pancreas/duodenum homeobox protein 1 [KO:
Nr5a2; nuclear receptor subfamily 5 group A member 2 [KO:
Neurog3; neurogenin-3 [KO:
Nkx2-2; homeobox protein Nkx-2.2 [KO:
Nkx6-1; homeobox protein Nkx-6.1 [KO:
Pax6; paired box protein Pax-6 [KO:
Pax4; paired box protein Pax-4 [KO:
Neurod1; neurogenic differentiation factor 1 [KO:
Rfx6; DNA-binding protein RFX6 [KO:
Hes1; transcription factor HES-1 [KO:
Hnf1b; hepatocyte nuclear factor 1-beta isoform 2 [KO:
Foxa2; hepatocyte nuclear factor 3-beta [KO:
Mafa; transcription factor MafA [KO:
Hnf4a; hepatocyte nuclear factor 4-alpha isoform 1 [KO:
Hnf1a; hepatocyte nuclear factor 1-alpha [KO:
Hnf4g; hepatocyte nuclear factor 4-gamma [KO:
Foxa3; hepatocyte nuclear factor 3-gamma [KO:
Pklr; pyruvate kinase PKLR [KO:
Slc2a2; solute carrier family 2, facilitated glucose transporter member 2 [KO:
Ins2; insulin-2 preproprotein [KO:
Ins1; insulin-1 preproprotein [KO:
Iapp; islet amyloid polypeptide precursor [KO:
Gck; hexokinase-4 isoform 2 [KO:
Bhlha15; class A basic helix-loop-helix protein 15 [KO:
Servitja JM, Ferrer J.
Transcriptional networks controlling pancreatic development and beta cell function.
Diabetologia 47:597-613 (2004)
Habener JF, Kemp DM, Thomas MK.
Minireview: transcriptional regulation in pancreatic development.
Endocrinology 146:1025-34 (2005)
Ashizawa S, Brunicardi FC, Wang XP.
PDX-1 and the pancreas.
Pancreas 28:109-20 (2004)
Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY).
Endocr J 50:491-9 (2003)
Insulin signaling pathway
Type II diabetes mellitus
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