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Comparative Proteomic Analysis of Whole Kidney, Medulla, and Cortical Tubules in Diabetic Pathogenesis of Kidney Injury in Mice
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Polymorphic differences in the SOD-2 gene may affect the pathogenesis of nephropathy in patients with diabetes and

Annwyne Houldsworth1, Andrea Hodgkinson1, Steve Shaw2

  • 1Molecular Medicine Research Groups, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom.

Gene
|April 11, 2015
PubMed
Abstract

Insights

Polymorphisms in the antioxidant gene SOD-2 may influence diabetes complications. The CC genotype of SOD-2 appears to offer protection against diabetic nephropathy in type 1 diabetes mellitus patients.

Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Oxidative Stress Research

Background:

  • Oxidative stress plays a key role in diabetes pathogenesis and complications.
  • Antioxidant gene polymorphisms may influence individual susceptibility to diabetes and its sequelae.
  • Understanding intracellular antioxidant defenses is crucial for effective diabetes management.

Purpose of the Study:

  • To investigate the association between SOD-2 gene polymorphisms and type 1 diabetes mellitus (T1DM).
  • To determine if specific SOD-2 genotypes confer protection against diabetic complications like nephropathy and retinopathy.
  • To compare genotype frequencies between T1DM patients and healthy controls.

Main Methods:

  • Genotyping of SOD-2 polymorphism (Ala/Val, C-9T substitution) in 278 T1DM patients and 135 healthy controls.
  • Analysis of genotype and allelic frequencies.
  • Comparison of frequencies between patient subgroups (diabetic controls, nephropathy, retinopathy) and healthy controls.
  • Assessment of Hardy Weinberg equilibrium.

Main Results:

  • A significant difference in C-9T genotype distribution was observed between T1DM patients and normal controls.
  • The CC genotype was significantly more prevalent in diabetic controls (11.3%) compared to patients with diabetic nephropathy (1.4%).
  • Healthy controls also showed a higher incidence of the CC genotype (11.4%) compared to patients with nephropathy (1.4%).

Conclusions:

  • The SOD-2 SNP (C-9T) leads to an alanine to valine amino acid change, affecting enzyme processing.
  • The CC genotype of SOD-2 suggests a protective role against the development of diabetic nephropathy.
  • The higher frequency of the CC genotype in healthy individuals may indicate a general antioxidant protective effect.
Keywords:
AntioxidantsDiabetes mellitusNephropathyOxidative stressSOD-2

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