An age-associated correlation between cellular bioenergy decline and mtDNA rearrangements in human skeletal muscle

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 421, Issue 1, 1998, Pages 27-36

  Kopsidas, George ^a   Kovalenko, Sergey A ^a   Kelso, Joanne M ^a   Linnane, Anthony W ^a  

^a EPWORTH HOSPITAL   (Australia)

Author keywords

Aging; Bioenergy; Cytochrome c oxidase; Mitochondrial DNA (mtDNA) mutation; Single cell extra long PCR; Skeletal muscle

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADULT; AGING; ARTICLE; BIOENERGY; CASE REPORT; CELL ENERGY; CHILD; GENE MUTATION; GENE REARRANGEMENT; HUMAN; HUMAN CELL; MUSCLE WEAKNESS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SKELETAL MUSCLE; SOUTHERN BLOTTING;

AGED; AGED, 80 AND OVER; AGING; CELLS, CULTURED; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; GENE REARRANGEMENT; HUMANS; MUSCLE FIBERS; MUSCLE, SKELETAL; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0032511842     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(98)00150-X     Document Type: Article

References (26)

1. [1] A.W. Linnane, S. Marzuki, T. Ozawa, M. Tanaka, Mitochondrial DNA mutations as an important contributor to aging and degenerative diseases, Lancet 1 (1989) 642-645.
2. [2] A.W. Linnane, Mitochondria and aging: the universality of bioenergetic disease, Aging 4 (1992) 267-271.
3. [3] A.W. Linnane, C. Zhang, A. Baumer, P. Nagley, Mitochondrial DNA mutation and the aging process: bioenergy and pharmacological intervention, Mutat. Res. 275 (1992) 195-208.
4. [4] T. Cooral-Debrinski, M. Horton, M.T. Lott, J.M. Shoffner, M.F. Beal, D.C. Wallace, Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced years, Nat. Genet. 2 (1992) 324-329.
5. [5] E. Mullaart, P.H.M. Lohman, F. Berends, J. Vijg, DNA damage metabolism and aging, Mutat. Res. 237 (1990) 189-210.
6. [6] Y.H. Wei, Mitochondrial DNA alterations as aging-associated events, Mutat. Res. 275 (1992) 145-155.
7. [7] D.C. Wallace, V.A. Bohr, G. Cortopassi, B. Kadenbach, S. Linn, A. W. Linnane, C. Richter, J.W. Shay, Group report: the role of bioenergetics and mitochondrial DNA mutations in aging and age-related diseases, in: K. Esser, G.M. Martin (Eds.), Molecular Aspects of Aging, Wiley, Chichester, England, 1995.
8. [8] J. Müller-Höcker, K. Schneiderbanger, F.H. Stefani, B. Kadenbach, Progressive loss of cytochrome c oxidase in the human extraocular muscles in aging - A cytochemical-immunohistochemical study, Mutat. Res. 275 (1992) 115-124.
9. [9] S.A. Kovalenko, G. Kopsidas, J.M. Kelso, A.W. Linnane, Deltoid human muscle mtDNA is extensively rearranged in old age subjects, Biochem. Biophys. Res. Commun. 232 (1997) 147-152.
10. [10] I. Trounce, E. Byrne, S. Marzuki, Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in aging, Lancet 1 (1989) 637-639.
11. [11] D. Boffoli, S.C. Scacco, R. Vergari, M.T. Persio, G. Solarino, R. Laforgia, S. Papa, Aging is associated in females with decline in the content and activity on the b-c1 complex in skeletal muscle mitochondria, Biochim. Biophys. Acta 1315 (1996) 66-72.
12. [12] C.E. Erickson, F.J. Castora, PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy, Biochim. Biophys. Acta 1181 (1993) 77-82.
13. [13] M. Sciacco, E. Bonilla, E.A. Schon, S. DiMauro, C.T. Moraes, Distribution of wild-type and common deletions forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy, Hum. Mol. Genet. 3 (1994) 13-19.
14. [14] V. Petruzzella, C.T. Moraes, M.C. Sano, E. Bonilla, S. DiMauro, E.A. Schon, Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243, Hum. Mol. Genet. 3 (1994) 449-454.
15. [15] J. Müller-Höcker, Cytochrome c oxidase deficient fibers in the limb muscle and diaphragm of man without muscular disease: an age-related alteration, J. Neurol. Sci. 100 (1990) 14-21.
16. [16] D.M. Irwin, T.D. Kocher, A.C. Wilson, Evolution of the cytochrome b gene of mammals, J. Mol. Evol. 32 (1991) 128-144.
17. [17] W.M. Barnes, PCR amplification of up to 35-kb DNA with high fidelity and high yield from λ bacteriophage templates, Proc. Natl. Acad. Sci. USA 91 (1994) 2216-2220.
18. [18] S.A. Kovalenko, G. Kopsidas, J.M. Kelso, F.L. Rosenfeldt, A.W. Linnane, Tissue-specific distribution of multiple mitochondrial DNA rearrangements during human aging, Ann. New York Acad. Sci. USA, in press.
19. [19] S. Cheng, Y. Chen, J.A. Monforte, R. Higuchi, B. Van Houten, Template integrity is essential for PCR amplification of 20-to 30-kb sequences from genomic DNA, PCR Meth. Appl. 4 (1995) 294-298.
20. [20] S. Cheng, R. Higuchi, M. Stoneking, Complete mitochondrial genome amplification, Nat. Genet. 7 (1994) 350-351.
21. [21] P. Reynier, Y. Malthiery, Accumulation of deletions in mtDNA during tissue aging: analysis by long PCR, Biochem. Biophys. Res. Commun. 217 (1995) 59-67.
22. [22] S.A. Kovalenko, G. Kopsidas, J.M. Kelso, A.W. Linnane, 1998, in preparation.
23. [23] H.A. Bentlage, G. Attardi, Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number, Hum. Mol. Genet. 5 (1996) 197-205.
24. [24] G.S. Shadel, D.A. Clayton, Mitochondrial DNA maintenance in vertebrates, Annu. Rev. Biochem. 66 (1997) 409-435.
25. [25] U.A. Walker, W.F. Walker, A.F. Miranda, Mitochondrial mobility in differentiating muscle heterokaryons, J. Neurol. Sci. 151 (1997) 135-140.
26. [26] T. Preiss, S.A. Lowerson, K. Weber, R.N. Lightowlers, Human mitochondria: distinct organelles or dynamic network?, Trends Genet. 11 (1995) 211-212.