Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus

Milan Flekac1, Jan Skrha, Jirina Hilgertova

  • 13rd Dept, of Internal Medicine, 1st Faculty of Medicine, Charles University, Prague, Czech Republic. milan.flekac@seznam.cz

BMC Medical Genetics
|April 22, 2008
PubMed
Abstract

Insights

Genetic variations in antioxidant enzymes like SOD1 and SOD2 are linked to vascular complications in diabetes mellitus (DM). Lower enzyme activity and specific gene polymorphisms correlate with poorer diabetes control and increased risk of macroangiopathy.

Area of Science:

  • Biochemistry
  • Genetics
  • Endocrinology

Background:

  • Hyperglycemia in diabetes mellitus (DM) elevates reactive oxygen species (ROS), damaging vascular tissues.
  • Reduced activity of scavenger enzymes is common in DM patients, potentially impairing antioxidant defenses.
  • Oxidative stress exacerbates the protective role of scavenger enzymes.

Purpose of the Study:

  • Investigate associations between gene polymorphisms of antioxidant enzymes and vascular complications in DM.
  • Determine the impact of genetic variations on scavenger enzyme activity and diabetes control.

Main Methods:

  • Genotyping of selected antioxidant enzyme genes (SOD1, SOD2, CAT).
  • Measurement of serum superoxide dismutase (SOD) activity.
  • Comparison of allele and genotype frequencies between diabetic patients (T1DM, T2DM) and controls.
  • Analysis of associations with vascular complications (macroangiopathy, microangiopathy) and diabetes control.

Main Results:

  • Significant differences in SOD1 and SOD2 allele/genotype distributions were found between diabetic and control groups (p < 0.01).
  • Serum SOD activity was significantly lower in T1DM and T2DM patients (p < 0.05).
  • SOD1 and SOD2 polymorphisms influenced SOD activity; specific genotypes (SOD1-AA, SOD2-CC) showed higher activity and better diabetes control.
  • SOD2 gene polymorphism frequencies differed between diabetic patients with and without macroangiopathy.

Conclusions:

  • Oxidative stress in DM is accelerated by increased ROS production and a diminished antioxidant defense system, partly due to single nucleotide polymorphisms (SNPs) in scavenger enzymes.
  • SOD1 and SOD2 gene polymorphisms are associated with altered SOD activity and may contribute to vascular complications in diabetes.

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