Polymorphic differences in the SOD-2 gene may affect the pathogenesis of nephropathy in patients with diabetes and diabetic complications.

Autor: Houldsworth A; Molecular Medicine Research Groups, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom. Electronic address: Annwyne.houldsworth@plymouth.ac.uk., Hodgkinson A; Molecular Medicine Research Groups, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom., Shaw S; School of Maths and Statistics, Plymouth University, Plymouth, United Kingdom., Millward A; Molecular Medicine Research Groups, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom; Department of Endocrinology, Derriford Hospital, Plymouth, United Kingdom., Demaine AG; Molecular Medicine Research Groups, Peninsula College of Medicine and Dentistry, Plymouth, United Kingdom.
Jazyk: angličtina
Zdroj: Gene [Gene] 2015 Sep 10; Vol. 569 (1), pp. 41-5. Date of Electronic Publication: 2015 Apr 06.
DOI: 10.1016/j.gene.2015.04.006
Abstrakt: Unlabelled: The effective treatment of diabetes and the prevention of diabetic complications may be improved by a better understanding of the antioxidant function of intracellular defences against oxidative stress. Polymorphisms in antioxidant genes may determine cellular oxidative stress levels as a primary pathogenic role in diabetes and/or in its complications. SOD-2 was investigated in patients with type 1 diabetes mellitus (T1DM) to ascertain if specific genotypes have any protective influences in the pathogenic mechanisms in diabetes and/or in several different complications, including retinopathy, nephropathy and diabetic controls compared to normal healthy controls.
Method: 278 (136M:142F) T1DM patients and 135 (72M:63F) normal, healthy controls were investigated for SOD-2 polymorphism in the mitochondrial targeting sequence with Ala/Val (C-9T) substitution.
Results: A significant difference in the C-9-T genotype was observed between patients and normal controls but not between diabetic controls and patients with complications. There were significantly more of the diabetic control (DC, n=62) group (11.3%) than the patients with diabetic nephropathy (DN, n=73) (1.4%) with the CC genotype (p=0.03 and χ(2)=4.27, OR=9.16 (1.08Conclusion: The SNP in SOD-2 results in a substitution of C to T, which causes an amino acid change from alanine to valine. The variation in the SOD-2 leader signal affects the processing efficiency of the enzyme. A significantly greater proportion of the diabetic control group had the CC genotype suggesting antioxidant protection against diabetic nephropathy. The healthy control group also had a higher incidence of the protective genotype, which may suggest protective influences from the antioxidant gene in the CC form.
(Copyright © 2015 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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