Hepatic energy metabolism in a family with a glucokinase gene mutation and dysglycemia

Diabetes Res Clin Pract. 2022 Mar;185:109779. doi: 10.1016/j.diabres.2022.109779. Epub 2022 Feb 14.


Carriers heterozygous for the D124N (c.370, GAC > AAC in exon 4) variant of GCK not only exhibit reduced insulin-secretion, but also impaired adipose insulin sensitivity, which may shift fatty acids towards the liver. This could contribute to increased hepatic lipid-accumulation and alterations of liver energy metabolism resulting in dysglycemia. ClinicalTrial.gov registration no: NCT01055093.

Keywords: Beta-cell function; Glucokinase; Hepatic energy metabolism; Insulin sensitivity; MODY.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diabetes Mellitus, Type 2* / genetics
  • Diabetes Mellitus, Type 2* / metabolism
  • Energy Metabolism / genetics
  • Female
  • Glucokinase* / genetics
  • Glucokinase* / metabolism
  • Humans
  • Insulin Resistance* / genetics
  • Liver / metabolism
  • Male
  • Mutation


  • Glucokinase

Associated data

  • ClinicalTrials.gov/NCT01055093