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Aetiology of maturity onset diabetes of the young

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

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

Reference:

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