KEGG PATHWAY: ko04950

KEGG

PATHWAY: ko04950

Entry

ko04950                     Pathway

Name

Maturity onset diabetes of the young

Description

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.

Class

Human Diseases; Endocrine and metabolic disease

Pathway map

Maturity onset diabetes of the young

Disease

Maturity onset diabetes of the young (MODY)

Orthology

homeobox protein HEX

homeobox protein HB9

one cut domain, family member 1 (hepatocyte nuclear factor 6)

insulin promoter factor 1

nuclear receptor subfamily 5 group A member 2

neurogenin 3

homeobox protein Nkx-2.2

homeobox protein Nkx-6.1

paired box protein 6

paired box protein 4

neurogenic differentiation factor 1

regulatory factor X 6

hairy and enhancer of split 1

transcription factor 2, hepatocyte nuclear factor 1-beta

forkhead box protein A2, hepatocyte nuclear factor 3-beta

transcription factor MAFA

hepatocyte nuclear factor 4-alpha

transcription factor 1, hepatocyte nuclear factor 1-alpha

hepatocyte nuclear factor 4-gamma

forkhead box protein A3, hepatocyte nuclear factor 3-gamma

pyruvate kinase isozymes R/L [EC:2.7.1.40]

MFS transporter, SP family, solute carrier family 2 (facilitated glucose transporter), member 2

insulin

islet amyloid polypeptide

glucokinase [EC:2.7.1.2]

class B basic helix-loop-helix protein 8

Reference

Authors

Servitja JM, Ferrer J.

Title

Transcriptional networks controlling pancreatic development and beta cell function.

Journal

Diabetologia 47:597-613 (2004)
DOI:10.1007/s00125-004-1368-9

Reference

Authors

Habener JF, Kemp DM, Thomas MK.

Title

Minireview: transcriptional regulation in pancreatic development.

Journal

Endocrinology 146:1025-34 (2005)
DOI:10.1210/en.2004-1576

Reference

Authors

Ashizawa S, Brunicardi FC, Wang XP.

Title

PDX-1 and the pancreas.

Journal

Pancreas 28:109-20 (2004)
DOI:10.1097/00006676-200403000-00001

Reference

Authors

Yamagata K.

Title

Regulation of pancreatic beta-cell function by the HNF transcription network: lessons from maturity-onset diabetes of the young (MODY).

Journal

Endocr J 50:491-9 (2003)
DOI:10.1507/endocrj.50.491

Related
pathway

Insulin signaling pathway

Type II diabetes mellitus

LinkDB

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