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Aetiology of maturity onset diabetes of the young

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Mutations in 10 different genes have been recognised as the cause of MODY. Several examples are as follows:

  • hepatocyte nuclear factor 1 alpha (HNF1A) gene
    • is a nuclear transcription results from a reduction in the key steps of glucose transport and metabolism
  • glucokinase (GCK) gene
    • heterozygous mutations of the glucokinase gene causes impaired glucose sensing by the pancreatic β cells, resulting in mild non-progressive hyperglycemia (5.5 – 8 m mol/L
  • hepatocyte nuclear factor 4 alpha (HNF4A) gene
    • is a nuclear transcription factor responsible for the regulation of hepatic and pancreatic ß cell gene expression
    • heterozygous mutations results in progressive decrease in insulin production
  • neurogenic differentiation factor 1 (NEUROD1) gene
  • insulin promoter factor 1 (IPF1)/ pancreatic and duodenal homeobox 1 (PDX1) gene
  • Krueppel-like factor 11 gene



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