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

Gene

Volumn 569, Issue 1, 2015, Pages 41-45

  Houldsworth, Annwyne ^a   Hodgkinson, Andrea ^a   Shaw, Steve ^b   Millward, Ann ^a,c   Demaine, Andy G ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b UNIVERSITY OF PLYMOUTH   (United Kingdom)

^c DERRIFORD HOSPITAL   (United Kingdom)

Author keywords

Antioxidants; Diabetes mellitus; Nephropathy; Oxidative stress; SOD 2

Indexed keywords

ALANINE; MANGANESE SUPEROXIDE DISMUTASE; VALINE; ANTIOXIDANT; SUPEROXIDE DISMUTASE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CARDIOVASCULAR DISEASE; CONTROLLED STUDY; DIABETES CONTROL; DIABETIC NEPHROPATHY; DIABETIC NEUROPATHY; DIABETIC PATIENT; DIABETIC RETINOPATHY; FEMALE; GENE FREQUENCY; GENETIC LINKAGE; GENOTYPE; HARDY WEINBERG EQUILIBRIUM; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL TARGETING SIGNAL; MOLECULAR PATHOLOGY; PRIORITY JOURNAL; RETINA MACULOPATHY; SCANNING ELECTRON MICROSCOPY; SINGLE NUCLEOTIDE POLYMORPHISM; VITREOUS HEMORRHAGE; DIABETES MELLITUS; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; OXIDATIVE STRESS; PATHOLOGY;

ADULT; ANTIOXIDANTS; DIABETES COMPLICATIONS; DIABETES MELLITUS, TYPE 1; DIABETIC NEPHROPATHIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; OXIDATIVE STRESS; POLYMORPHISM, SINGLE NUCLEOTIDE; SUPEROXIDE DISMUTASE;

EID: 84937520123     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.04.006     Document Type: Article

References (49)

1. Baynes J.W. Role of oxidative stress in development of complications in diabetes. Importance of SE-glutathione, catalase, and Cu/Zn-SOD for cell survival against oxidative stress. Diabetes 1991, 40:405-412.
2. Beckman K.B., Ames B.N. The free radical theory of aging matures. Physiol. Rev. 1998, 78:547-581.
3. Brownlee M. Biochemistry and molecular cell biology of diabetic complications. Nature 2001, 414:813-820.
4. Brownlee M. The pathobiology of diabetic complications: a unifying mechanism. Diabetes 2005, 54:1615-1625.
5. Chistyakov D.A., Savost'anov K.V., Zotova E.V., Nosikov V.V. Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus 1999, 4. (Epub).
6. Chistyakov D.A., Savost'anov K.V., Zotova E.V., Nosikov V.V. Polymorphisms in the Mn-SOD and EC-SOD genes and their relationship to diabetic neuropathy in type 1 diabetes mellitus. BMC Med. Genet. 2001, 2:4.
7. Church S.L., Farmer D.R., Nelson D.M. Induction of manganese superoxide dismutase in cultured human trophoblast during in vitro differentiation. Dev. Biol. 1992, 149:177-184.
8. Cohen Guy, Riahi Yael, Sasson Shlomo Free Radicals and Metabolic Disorders 2012, 10.1002/9781119953678.
9. Demaine A.G., Cross D.F., Millward A. Polymorphisms of the aldose reductase gene and susceptibility to retinopathy in type 1 diabetes mellitus. Invest. Ophthalmol. Vis. Sci. 2000, 41:4064-4068.
10. Dynan W.S., Sazer S., Tjian R., Schimke R.T. Transcription factor Sp1 recognizes a DNA sequence in the mouse dihydrofolate reductase promoter. Nature 1986, 319:246-248.
11. Emigh T.H. A comparison of tests for Hardy-Weinberg equilibrium. Biometrics 1980, 36:627-642.
12. Flekac M., Skrha J., Hilgertova J., Lacinova Z., Jarolimkova M. Gene polymorphisms of superoxide dismutases and catalase in diabetes mellitus. BMC Med. Genet. 2008, 9:30.
13. Guigliano D., Ceriello A., Paolisso G. Oxidative stress and diabetic vascular complications. Diabetes Care 1996, 19:257-267.
14. Heesom A.E., Millward B.A., Demaine A.G. Susceptibility to diabetic neuropathy in patients with insulin-dependent diabetes mellitus is associated with a polymorphism at the 5' end of the aldose reductase gene. J. Neurol. Neurosurg. Psychiatry 1998, 64:213-216.
15. Hodgkinson A.D., Bartlett T., Oates P.J., Millward B.A., Demaine A.G. The response of antioxidant genes to hyperglycemia is abnormal in patients with type 1 diabetes and diabetic nephropathy. Diabetes 2003, 52:846-851.
16. Houldsworth A., Metzner M., Shaw S., Kaminski E., Hodgkinson A., Demaine A.G., Cramp M.E. Polymorphic differences in SOD-2 may influence HCV viral clearance. J. Med. Virol. 2014, 86:941-947.
17. Hovnik T., Dolžan V., Bratina N.U., Podkrajšek K.T., Battelino T. Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes. Diabetes Care 2009, 32:2258-2262.
18. Kiritoshi S., Nishikawa T., Sonoda K., et al. Reactive oxygen species from mitochondria induce cyclooxygenase-2 gene expression in human mesangial cells: potential role in diabetic nephropathy. Diabetes 2003, 52:2570-2577.
19. Kobayashi T., Tahara Y., Matsumoto M., Iguchi M., Sano H., Murayama T., Arai H., Oida H., Yurugi-Kobayashi T., Yamashita J.K., Katagiri H., Majima M., Yokode M., Kita T., Narumiya S. Roles of thromboxane A(2) and prostacyclin in the development of atherosclerosis in apoE-deficient mice. J. Clin. Invest. 2004, 114:784-794.
20. Lee H.C., Yin P.H., Lu C.Y., Chi C.W., Wei Y.H. Increase of mitochondria and mitochondrial DNA in response to oxidative stress in human cells. Biochem. J. 2000, 348:425-432.
21. Li Y., Huang T.T., Carlson E.J., Melov S., Ursell P.C., Olson J.L., Noble L.J., Yoshimura M.P., Berger C., Chan P.H., Wallace D.C., Epstein C.J. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat. Genet. 1995, 11:376-381.
22. Li Y., Huang T.T., Carlson E.J., Melov S., Ursell P.C., Olson J.L., Noble L.J., Yoshimura M.P., Berger C., Chan P.H., Wallace D.C., Epstein C.J. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat. Genet. 1995, 11(4):376-381.
23. Liu L., Zheng T., Wang N., et al. The manganese superoxide dismutase Val16Ala polymorphism is associated with decreased risk of diabetic nephropathy in Chinese patients with type 2 diabetes. Mol. Cell. Biochem. 2009, 322:87-91.
24. McKnight A.J., Patterson C.C., Möllsten A., Vance D.R., Tarnow L., Maxwell A.P. Review of genetic association in the SOD2 gene with chronic kidney disease: case-control studies and meta-analysis confirm association with diabetic nephropathy. Nephrol. Rev. 2012, 4:e12.
25. Michels C. Cellular dysfunction in diabetes as maladaptive response to mitochondrial oxidative stress. Free Radic. Biol. 1994, 17:235-248.
26. Michiels C., Raes M., Toussaint O., Remacle J. Importance of Se-glutathione antioxidant gene expression, peroxidase, catalase and Cu/Zn SOD for cell survival against oxidative stress. Free Radic. Biol. Med. 1994, 17:235-248.
27. Möllsten A., Marklund S.L., Wessman M., Svensson M., Forsblom C., Parkkonen M., Brismar K., Groop P.H., Dahlquist G. A functional polymorphism in the manganese superoxide dismutase gene and diabetic nephropathy. Diabetes 2007, 56:265-269.
28. Möllsten A., Jorsal A., Lajer M., Vionnet N., Tarnow L. Association of the C47T polymorphism in SOD2 with diabetes mellitus and diabetic microvascular complications: a meta-analysis. Diabetologia 2011, 54:803-811.
29. Muller F.L., Lustgarten M.S., Jang Y., Richardson A., Van Remmen H. Trends in oxidative aging theories. Free Radic. Biol. Med. 2007, 43(4):477-503.
30. Nakanishi S., et al. Manganese superoxide dismutase Ala16Val polymorphism is associated with the development of type 2 diabetes in Japanese-Americans. Diabetes Res. Clin. Pract. 2008, 81:381-385.
31. Naudi A., Jove M., Ayala V., Cassanye A., Serrano J., Gonzalo H., Boada J., Prat J., Portero-Otin M., Pamplona R. Cellular dysfunction in diabetes as maladaptive response to mitochondrial oxidative stress. Exp. Diabetes Res. 2012, 2012:1-14.
32. Negre-Salvayre A., Salvayre R., Augé N., Pamplona R., Portero-Otín M. Hyperglycemia and glycation in diabetic complications. Antioxid. Redox Signal. 2009, 11:3071-3109.
33. Nishikawa T., Edelstein D., Du X.L., Yamagishi S., Matsumura T., Kaneda Y., Yorek M.A., Bee D., Oates P.J., Hammes H.P., Giardino I., Brownlee M. Normalising mitochondrial superoxide production blocks three pathways of hyperglycaemia damage. Nature 2000, 404:787-790.
34. Rubattu S., Pagliaro B., Pierelli G., Santolamazza C., Castro S.D., Mennuni S., Volpe M. Pathogenesis of target organ damage in hypertension: role of mitochondrial oxidative stress. Int. J. Mol. Sci. 2014, 16(1):823-839.
35. Salahudeen A.K., Kanji V., Reckelhoff J.F., Schmidt A.M. Pathogenesis of diabetic nephropathy: a radical approach. Nephrol. Dial. Transplant. 1997, 12:664-668.
36. Salvemini D., Wang Z.Q., Zweier J.L., Samouilov A., Macarthur H., Misko T.P., Currie M.G., Cuzzocrea S., Sikorski J.A., Riley D.P. A nonpeptidyl mimic of superoxide dismutase with therapeutic activity in rats. Science 1999, 286:304-306.
37. Sentman M.L., Granstrom M., Jakobson H., Reaume A., Basu S., Marklund S.L. Phenotypes of mice lacking extracellular superoxide dismutase and copper- and zinc-containing superoxide dismutase. J. Biol. Chem. 2006, 281:6904-6909.
38. Shimizu T., Nojiri H., Kawakami S., Uchiyama S., Shirasawa T. Model mice for tissue specific deletion of the manganese superoxide dismutase. Geriatr. Gerontol. 2010, 10:S70-S79.
39. Shimoda-Matsubayashi S., Matsumine H., Kobayashi T., Nakagawa-Hattori Y., Shimizu Y., Mizuno Y. Structural dimorphism in the mitochondrial targeting sequence in the human manganese superoxide dismutase gene. A predictive evidence for conformational change to influence mitochondrial transport and a study of allelic association in Parkinson's disease. Biochem. Biophys. Res. Commun. 1996, 226:561-565.
40. Sozou P.D., Kirkwood T.B. A stochastic model of cell replicative senescence based on telomere shortening, oxidative stress, and somatic mutations in nuclear and mitochondrial DNA. J. Theor. Biol. 2001, 213:573-586.
41. Sun Y., Oberley L.W., Elwell J.H., Sierra-Rivera E. Lowered antioxidant enzymes in spontaneously transformed embryonic mouse liver cells in culture. Carcinogenesis 1993, 14:1457-1463.
42. Sutton A., Khoury H., Prip-Buus C., Cepanec C., Pessayre D., Degoul F. The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria. Pharmacogenetics 2003, 13:145-157.
43. Tiwari A., Prasad P., Prasanna Kumar K., Ammini A., Gupta A., Gupta R. Oxidative stress pathway genes and chronic renal insufficiency in Asian Indians with Type 2 diabetes. J. Diabetes Complicat. 2009, 23:102-111.
44. Todd J.A., Farrall M. Panning for gold: genome-wide scanning for linkage in type 1 diabetes. Hum. Mol. Genet. 1996, 5:1443-1448.
45. Van Landeghem G.F., Tabatabaie P., Kucinskas V., Saha N., Beckman G. Ethnic variation in the mitochondrial targeting sequence polymorphism of MnSOD. Hum. Hered. 1999, 49:190-193.
46. Van Remmen H., Ikeno Y., Hamilton M., Pahlavani M., Wolf N., Thorpe S.R., Alderson N.L., Baynes J.W., Epstein C.J., Huang T.T., Nelson J., Strong R., Richardson A. Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging. Physiol. Genomics 2003, 16(1):29-37.
47. Vojtková J., Ďurdík P., Čiljaková M., Michnová Z., Turčan T., Babušíková E. The association between glutathione S-transferase T1 and M1 gene polymorphisms and cardiovascular autonomic neuropathy in Slovak adolescents with type 1 diabetes mellitus. J. Diabetes Complicat. 2013, 27(1):44-48.
48. Wold L.E., Ceylan-isik A.F., Ren J. Oxidative stress and stress signaling: menace of diabetic cardiomyopathy. Acta Pharmacol. Sin. 2005, 26:908-917.
49. Yang Y., Song D.P., Wang Y.M. Association between manganese superoxide dismutase gene V16A polymorphism and type 2 diabetic nephropathy. Chin. J. Diabetes 2007, 15:18-20.