Large-scale mitochondrial DNA deletions in skeletal muscle of patients with end-stage renal disease

Free Radical Biology and Medicine

Volumn 29, Issue 5, 2000, Pages 454-463

  Lim, Paik Seong ^a,b,c   Cheng, Yueh Mei ^c   Wei, Yau Huei ^a  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b CHANG GUNG UNIVERSITY   (Taiwan)

^c KUANG TIEN GENERAL HOSPITAL   (Taiwan)

Author keywords

Deletion; End stage renal disease; Free radicals; Mitochondrial DNA; Skeletal muscle

Indexed keywords

FREE RADICAL; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE;

ADULT; AGED; AGING; ARTICLE; CONTROLLED STUDY; DNA DAMAGE; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; KIDNEY FAILURE; MALE; OXIDATIVE STRESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE; UREMIA;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; DNA PRIMERS; DNA, MITOCHONDRIAL; FEMALE; FREE RADICAL SCAVENGERS; GLUTATHIONE; GLUTATHIONE PEROXIDASE; HUMAN; KIDNEY FAILURE, CHRONIC; MALE; MALONDIALDEHYDE; MIDDLE AGE; MUSCLE, SKELETAL; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; SULFHYDRYL COMPOUNDS; SUPEROXIDE DISMUTASE; SUPPORT, NON-U.S. GOV'T;

EID: 0034281980     PISSN: 08915849     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0891-5849(00)00334-8     Document Type: Article

References (50)

1. Anderson S., Bankier A.T., Barrell B.G., de Brujin M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G. Sequence and organization of the human mitochondrial genome. Nature. 290:1981;457-465.
2. Bogenhagen D., Clayton D.A. The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. J. Biol. Chem. 249:1974;7991-7995.
3. Wallace D.C. Mitochondrial genetics a paradigm for aging and degenerative diseases? Science. 256:1992;628-632.
4. Shigenaga M.K., Hagen T.M., Ames B.N. Oxidative damage and mitochondrial delay in aging. Proc. Natl. Acad. Sci. USA. 91:1994;10771-10778.
5. Clayton D.A., Doda J.N., Friedberg E.C. The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria. Proc. Natl. Acad. Sci. USA. 71:1974;2777-2781.
6. Richter C., Park J.W., Ames B.N. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc. Natl. Acad. Sci. USA. 85:1988;6465-6467.
7. Hruszkewycz A.M. Lipid peroxidation and mtDNA degeneration a hypothesis . Mutat. Res. 275:1992;243-248.
8. Bandy B., Davison A.J. Mitochondrial mutations may increase oxidative stress implications for carcinogenesis and aging . Free Radic. Biol. Med. 8:1990;523-539.
9. Wallace D.C. Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61:1992;1175-1212.
10. Tritsehler H.J., Medori R. Mitochondrial DNA alterations as a source of human disorders. Neurology. 43:1993;280-288.
11. Schon E.A., Rizzuto R., Moracs C.T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hot spot for large scale deletion of human mitochondrial DNA. Science. 244:1989;346-349.
12. Johns D.R., Rutledge S.L., Stine O.C., Hurko O. Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc. Natl. Acad. Sci. USA. 174:1989;1324-1330.
13. Lee H.C., Pang C.Y., Hsu H.S., Wei Y.H. Differential accumulations of 4977 bp deletion in mitochondrial DNA of various tissues in human ageing. Biochim. Biophys. Acta. 1226:1994;37-43.
14. Münscher C., Rieger T., Müller-Höcker J. The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett. 317:1993;27-30.
15. Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
16. Zeviani M., Moraes C.T., DiMauro S. Deletion of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 38:1988;1339-1346.
17. Zhang C., Baumer A., Maxwell R.J., Linnane A.W., Nagley P. Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett. 297:1992;34-38.
18. Yang J.H., Lee H.C., Wei Y.H. Photoageing-associated mitochondrial DNA length mutations in human skin. Arch. Dermatol. Res. 287:1995;641-648.
19. Loughrey C.M., Young I.S., Lightbody J.H., McMaster D., McNamee P.T., Trimble E.R. Oxidative stress in hemodialysis. Q. J. Med. 87:1994;679-683.
20. Ceballos-Picot I., Witko-Sarsat V., Merad-Boudia M., Nguyen A.T., Thevenin M., Jaudon M.C., Zingraff J., Verger C., Jungers P., Descamps-Latscha B. Gluthathione antioxidant system as a marker of oxidative stress in chronic renal failure. Free Radic. Biol. Med. 21:1996;845-853.
21. Himmerlfarb J., Lazarus M., Hakim R. Reactive oxygen species production by monocytes and polymorphonuclear leukocytes during dialysis. Am. J. Kidney Dis. 17:1991;271-276.
22. Dasgupta A., Hussain S., Ahmad S. Increased lipid peroxidation in patients on maintenance hemodialysis. Nephron. 60:1992;56-59.
23. Tanaka, M.; Ozawa, T. Analysis of mitochondria DNA mutations. In: Longstaff, A.; Revest, P., eds. Methods in molecular biology. Totowa: Humana Press; 1-28.
24. Oyanagui Y. Reevaluation of assay methods and establishment of kit for superoxide dismutase activity. Anal. Biochem. 142:1984;290-296.
25. Paglia D.E., Valentine W.N. Studies on the quantitative and qualitative characterization of erythrocytes glutathione peroxidase. J. Lab. Clin. Med. 70:1967;158-169.
26. Ellman G.L. Tissue sulfhydryl groups. Arch. Biochem. Biophys. 82:1969;70-77.
27. Londero D., Greco P.L. Automated high-performance liquid chromatographic separation with spectrofluorometric detection of a malondialdehyde-thiobarbituric acid adduct in plasma. J. Chromatogr. 729:1996;207-210.
28. Miquel J., Economos A.C., Fleming J.E., Johnson J.E. Mitochondrial role in cell ageing. Exp. Gerontol. 15:1980;575-591.
29. Yen T.C., Su J.H., King K.L., Wei Y.H. Ageing-associated 5 kb deletion in human liver mitochondrial DNA. Biochem. Biophys. Res. Commun. 178:1991;124-131.
30. Katsumata K., Hayakawa M., Tanaka M., Sugiyama S., Ozawa T. Fragmentation of human heart mitochondrial DNA associated with premature aging. Biochem. Biophys. Res. Commun. 202:1994;102-110.
31. Lee H.C., Lim M.L.R., Lu C.Y., Liu V.W.S., Fahn H.J., Zhang C., Nagley P., Wei Y.H. Concurrent increase of oxidative DNA damage and lipid peroxidation together with mitochondrial DNA mutation in human lung tissues during agingsmoking enhances oxidative stress on the aged tissues. Arch. Biochem. Biophys. 362:1999;309-316.
32. Mita S., Rizzuto R., Moraes C.T., Shanske S., Arnaudo E., Fabrizi G.M., Koga Y., DiMauro S., Schon E. Recombination via flanking direct repeats is a major cause of large-scale deletions of human DNA. Nucleic Acids Res. 18:1990;561-567.
33. Hayakawa M., Hattori K., Sugiyama S., Ozawa T. Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts. Biochem. Biophys. Res. Commun. 189:1992;979-985.
34. Li Y.Y., Hengstenberg C., Maisch B. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 210:1995;211-218.
35. Suomalainen A., Kaukonen J., Amati P., Timonen R., Haltia M., Weisenbach J., Zeviani M., Somer H., Peltonen L. An autosomal locus predisposing to deletions of mitochondrial DNA. Nature Genet. 9:1995;146-151.
36. Wei Y.H. Mitochondrial DNA alterations as ageing-associated molecular events. Mutat. Res. 275:1992;145-155.
37. akes F.M., van Houten B. Mitochondrial DNA damage is more extensive and persists longer than nuclear DNA damage in human cells following oxidative stress. Proc. Natl. Acad. Sci. USA. 94:1997;514-519.
38. Malachi T., Zevin D., Gafter U., Chagnac A., Slor H., Levi J. DNA repair and recovery of RNA synthesis in uremic patients. Kidney Int. 44:1993;385-389.
39. Kovalenko S.A., Kopsidas G., Kelso J.M., Linnane A.W. Deltoid human muscle mtDNA is extensively rearranged in old age subjects. Biochem. Biophys. Res. Commun. 232:1997;147-152.
40. Reynier P., Pellissier J.F., Harle J.R., Malthiery Y. Multiple deletions of the mitochondrial DNA in polymyalgia rheumatica. Biochem. Biophys. Res. Commun. 205:1994;375-380.
41. Melov S., Shoffner J.M., Kaufman A., Wallace D.C. Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res. 23:1995;4122-4126.
42. Yen T.C., King K.L., Lee H.C., Yeh S.H., Wei Y.H. Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria. Free Radic. Biol. Med. 16:1994;207-214.
43. Lazaro R.P., Kirshner H.S. Proximal muscle weakness in uremia case reports and review of literature . Arch. Neurol. 37:1980;555-558.
44. Floyd M., Ayyar D.R., Barwick D.D., Hudgson P., Weightman D. Myopathy in chronic renal failure. Q. J. Med. 11:1974;117-123.
45. Guarnieri G., Toigo G., Situlin R., Faccini L., Coli U., Landini S., Bazzato G., Dardi F., Campanacci L. Muscle biopsy studies in chronically uremic patients evidence of malnutrition . Kidney Int. 24:1983;187-193.
46. Clyne N., Jogestrand T., Lins L.-E., Pehrsson K.S., Ekelund L.-G. Factors limiting physical working capacity in predialytic uremic patients. Acta. Med. Scand. 222:1987;183-190.
47. Fahal I.H., Bell G.M. Uraemic myopathy fact and fiction . Int. J. Artif. Organs. 21:1998;185-187.
48. Moore G.E., Parsons D.B., Stray-Gunderson J. Uraemic myopathy limits aerobic capacity in haemodialysis patients. Am. J. Kidney Dis. 22:1993;277-287.
49. Barany P., Wibom R., Hultman E., Bergstrom J. ATP production in isolated muscle mitochondria from hemodialysis patients effects of correction of anemia with erythropoietin . Clin. Sci. 81:1991;645-653.
50. Fromenty B., Grimbert S., Mansouri A., Beaugrand M., Erlinger S., Rötig A., Pessayre D. Hepatic mitochondrial DNA deletion in alcoholics association with microvesicular steatosis . Gastroenterology. 108:1995;193-200.