Genetic defects in six genes are known to cause MODY: the hepatocyte nuclear factor-4[alpha]: HNF-4[alpha]/(MODY1); glucokinase
: GCK/(MODY2); the hepatocyte nuclear factor-1[alpha]: HNF-1[alpha]/(MODY3); insulin promoter factor-1: IPFl/ (MODY4); hepatocyte nuclear factor-1[beta]: HNF-1[beta]/(MODY5); and transcriptional factor, neurogenic differentiation1: Neuro-D1/(MODY 6) (3-5).
Kaneto et al., "Induction of glycation suppresses glucokinase
gene expression in HIT-T15 cells," Diabetologia, vol.
Genes in deleted region (7p13-p12.1) and predicted phenotypic effects Gene OMIM Description HI% pLI Phenotype number GCK 138079 Glucokinase
8.07 0.20 MODY type 2 CCM2 607929 CCM2 scaffolding 28.18 0.48 Cerebral protein cavernomatous malformations IGFBP-3 146732 Insulin-like growth 6.39 0.36 Decrease in factor-binding postnatal growth protein 3 OGDH 613022 Oxoglutarate 17.23 0.99 Short stature, dehydrogenase hypotonia, cognitive impairment, and movement abnormalities OMIM: Online Mendelian Inheritance in Man, MODY: maturity-onset diabetes of the young, HI: haploinsufficiency index - protein coding genes have been scored according to their predicted probability of exhibiting haploinsufficiency (5), pLI: lost intolerance score.
Molecular cloning of hepatic glucose-6-phosphate catalytic subunit from gilthead sea bream (Sparus aurata): Response of its mRNA levels and glucokinase
expression to refeeding and diet composition.
(GK) also plays a crucial role in regulating blood sugar levels.
An hsCRP value of <0.4mg/T has a sensitivity of 71% and specificity of 77% for diagnosing HNF1A (as opposed to type 2 diabetes) once type 1 diabetes and glucokinase
mutations have been excluded.
GKA is a small molecule activator of the glucokinase
enzyme which plays an important role in regulating carbohydrate metabolism.
Biotin induces the enzyme glucokinase
, which plays a role in the catabolism of glucose.
, another gene associated with insulin action, was also downregulated.
Wnt signalling specific marker such as glucokinase
decreased from day 9 to day 12.
It is caused by a heterozygous mutation in the glucokinase
gene on chromosome 7 (5).