Aetiology of maturity onset diabetes of the young

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:

• (1) Nyunt O et al. Investigating maturity onset diabetes of the young. Clin Biochem Rev. 2009;30(2):67-74
• (2) Attiya K, Sahar F. Maturity-onset Diabetes of the Young (MODY) Genes: Literature Review. Clinical Practice 2012, 1(1): 4-11

.