Related Experiment Videos

Hepatocyte nuclear factor-4 alpha gene mutations in Japanese non-insulin dependent diabetes mellitus (NIDDM) patients

H Nakajima1, I Yoshiuchi, T Hamaguchi

  • 1Second Department of Internal Medicine, Osaka University Medical School, Japan.

Research Communications in Molecular Pathology and Pharmacology
|December 1, 1996
PubMed

Insights

A specific HNF-4 alpha gene mutation (Q268X) was investigated in Japanese patients with type 2 diabetes. This mutation was not found to be frequent, suggesting it is not a major cause of diabetes in this population.

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • Hepatocyte nuclear factor-4 alpha (HNF-4 alpha) gene mutations are linked to maturity-onset diabetes of the young (MODY).
  • The HNF-4 alpha gene is a potential candidate for causing non-insulin dependent diabetes mellitus (NIDDM).

Purpose of the Study:

  • To investigate the frequency of the Q268X mutation in the HNF-4 alpha gene in Japanese NIDDM patients.
  • To determine if the Q268X mutation is a significant diabetogenic factor in the Japanese population.

Main Methods:

  • Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used.
  • The Q268X mutation (C to T substitution in exon 7 of HNF-4 alpha) was screened in 514 alleles from Japanese NIDDM patients.

Main Results:

  • No instances of the Q268X mutation were detected in the studied Japanese NIDDM patient cohort.
  • The Q268X mutation of the HNF-4 alpha gene is infrequent among general NIDDM patients in Japan.

Conclusions:

  • The Q268X mutation in the HNF-4 alpha gene is not a common cause of NIDDM in the Japanese population.
  • This specific HNF-4 alpha gene mutation does not appear to be a major diabetogenic gene in Japanese individuals.

Related Concept Videos