Prevalence of the DNA repair enzyme-NEIL1 gene mutation in patients with Type 2 diabetes in the Turkish population

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Salmanoglu M., Kucukardali Y., Kucukodacı Z., Fenercioglu A. , Solmazgul E., Onem Y., ...More

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol.35, no.4, pp.401-406, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 4
  • Publication Date: 2012
  • Doi Number: 10.3275/8017
  • Page Numbers: pp.401-406


In spite of the fact that an indirect relationship between NEIL1 gene and Type 2 diabetes has been demonstrated in animal model studies, there have been no human studies showing this relationship. In our study, we aimed to show the relationship between NEIL1 mutation and Type 2 diabetes in humans. The study group consisted 70 patients with Type 2 diabetes and the control group consisted of 50 healthy individuals. The mean age was 53 +/- 11 yr and 49 +/- 11 yr. respectively. Two NEIL1 mutations (2.9%) were detected in the patient group. There was A -> G change (133A -> G) at the 133. position of the 8th exon with 257 bp length in base sequencing. There was no mutation in the control group. We searched NEIL1 gene mutation for the first time in patients with Type 2 diabetes. This mutation was "silent" as it did not cause any amino acid change. The effects of these mutations on the etiopathogenesis of disease are not known. Although the lysine encoded by AAG was identical to the lysine encoded by AAA, it is not dear if they have functional differences due to the changing environmental conditions. NEIL1 gene mutation may have causative role in the development of Type 2 diabetes. (J. Endocrinol. Invest. 35: 401-406, 2012) (C) 2012, Editrice Kurtis