Hepatocyte nuclear factor 1-alpha mutation in normal glucose-tolerant subjects and early-onset type 2 diabetic patients

Korean J Intern Med. 2008 Dec;23(4):165-9. doi: 10.3904/kjim.2008.23.4.165.

Abstract

Background/aims: The prevalence of diabetes in Korea is reported to be approximately 10%, but cases of maturity-onset diabetes of the young (MODY) are rare in Korea. A diagnostic technique for autosomal dominant MODY is being actively sought. In this regard, we used a DNA chip to investigate the frequency of mutations of the MODY3 gene (hepatocyte nuclear factor-1alpha) in Korean patients with early-onset type 2 diabetes.

Methods: The genomic DNA of 30 normal individuals [age, 24.9+/-8.6 years] and 25 patients with early-onset type 2 diabetes (age, 27+/-5.9 years) was extracted, and the MODY3 gene was amplified. The amplified DNA was hybridized onto a MODY3 chip, which has oligonucleotides of 15-25 bases, representing wild-type and mutant MODY3 sequences in both forward and reverse orientations, immobilized on its surface.

Results: Among the normal subjects, there was no mutation of MODY3. Among those with early-onset type 2 diabetes, there was one case of MODY3 mutation.

Conclusions: Our results indicate that MODY3 mutations are not rare in Korean early-onset type 2 diabetes patients in Korea and suggest that MODY3 mutations in patients with early-onset type 2 diabetes need to be further evaluated.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Asian People / genetics
  • Asian People / statistics & numerical data*
  • Case-Control Studies
  • Cohort Studies
  • Diabetes Mellitus, Type 2 / epidemiology*
  • Diabetes Mellitus, Type 2 / genetics*
  • Female
  • Hepatocyte Nuclear Factor 1-alpha / genetics*
  • Humans
  • Korea
  • Male
  • Mutation / genetics*
  • Prevalence
  • Young Adult

Substances

  • HNF1A protein, human
  • Hepatocyte Nuclear Factor 1-alpha