Nucleic Acids Research, 1990, Vol. 18, No. 23 6927-6933
© 1990
Articles |
Detection of a specific mitochondrial DNA deletion in tissues of older humans
Molecular Biology Section, University of Southern California Los Angeles, CA 90089-1340, USA
Received August 31, 1990. Revised October 25, 1990. Accepted October 25, 1990.
Using PCR, we found that normal heart muscle and brain from adult human individuals contain low levels of a specific mitochondrial DNA deletion, previously found only in patients affected with certain types of neuromuscular disease. This deletion was not observed in fetal heart or brain. Experimental tests support the idea that the deletion exists in vivo in adult mitochondria and Is not an in vitro artifact of PCR. Our data provide direct experimental support for the idea that accumulation of mitochondrial DNA deletions may be Important in aging.
![]()
CiteULike
Connotea
Del.icio.us What's this?
This article has been cited by other articles:
![]() |
P. Laun, C. V. Bruschi, J. Richard Dickinson, M. Rinnerthaler, G. Heeren, R. Schwimbersky, R. Rid, and M. Breitenbach Yeast mother cell-specific ageing, genetic (in)stability, and the somatic mutation theory of ageing Nucleic Acids Res., December 11, 2007; (2007) gkm919v2. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y.-F. Chou, C.-C. Yu, and R.-F. S. Huang Changes in Mitochondrial DNA Deletion, Content, and Biogenesis in Folate-Deficient Tissues of Young Rats Depend on Mitochondrial Folate and Oxidative DNA Injuries J. Nutr., September 1, 2007; 137(9): 2036 - 2042. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. A. Partridge, S. X.L. Huang, E. Hernandez-Rosa, M. M. Davidson, and T. K. Hei Arsenic Induced Mitochondrial DNA Damage and Altered Mitochondrial Oxidative Function: Implications for Genotoxic Mechanisms in Mammalian Cells Cancer Res., June 1, 2007; 67(11): 5239 - 5247. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. J. KRISHNAN, L. C. GREAVES, A. K. REEVE, and D. M. TURNBULL Mitochondrial DNA Mutations and Aging Ann. N.Y. Acad. Sci., April 1, 2007; 1100(1): 227 - 240. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. Herbst, J. W. Pak, D. McKenzie, E. Bua, M. Bassiouni, and J. M. Aiken Accumulation of Mitochondrial DNA Deletion Mutations in Aged Muscle Fibers: Evidence for a Causal Role in Muscle Fiber Loss J. Gerontol. A Biol. Sci. Med. Sci., March 1, 2007; 62(3): 235 - 245. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. Phadnis, R. A. Sia, and E. A. Sia Analysis of Repeat-Mediated Deletions in the Mitochondrial Genome of Saccharomyces cerevisiae Genetics, December 1, 2005; 171(4): 1549 - 1559. [Abstract] [Full Text] [PDF] |
||||
![]() |
T.C. Gibson, H.M. Kubisch, and C.A. Brenner Mitochondrial DNA deletions in rhesus macaque oocytes and embryos Mol. Hum. Reprod., November 1, 2005; 11(11): 785 - 789. [Abstract] [Full Text] [PDF] |
||||
![]() |
A Jafari, M A Hosseinpourfaizi, M Houshmand, and A A Ravasi Effect of aerobic exercise training on mtDNA deletion in soleus muscle of trained and untrained Wistar rats Br. J. Sports Med., August 1, 2005; 39(8): 517 - 520. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. M. Druzhyna, S. I. Musiyenko, G. L. Wilson, and S. P. LeDoux Cytokines Induce Nitric Oxide-mediated mtDNA Damage and Apoptosis in Oligodendrocytes: PROTECTIVE ROLE OF TARGETING 8-OXOGUANINE GLYCOSYLASE TO MITOCHONDRIA J. Biol. Chem., June 3, 2005; 280(22): 21673 - 21679. [Abstract] [Full Text] [PDF] |
||||
![]() |
V. Pesce, A. Cormio, F. Fracasso, A. M. S. Lezza, P. Cantatore, and M. N. Gadaleta Age-Related Changes of Mitochondrial DNA Content and Mitochondrial Genotypic and Phenotypic Alterations in Rat Hind-Limb Skeletal Muscles J. Gerontol. A Biol. Sci. Med. Sci., June 1, 2005; 60(6): 715 - 723. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. S. LIM, K. JEYASEELAN, M. WHITEMAN, A. JENNER, and B. HALLIWELL Oxidative Damage in Mitochondrial DNA Is Not Extensive Ann. N.Y. Acad. Sci., May 1, 2005; 1042(1): 210 - 220. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. TAKAKI, S. JIMI, M. SEGAWA, and H. IWASAKI Cadmium-Induced Nephropathy in Rats Is Mediated by Expression of Senescence-Associated Beta-Galactosidase and Accumulation of Mitochondrial DNA Deletion Ann. N.Y. Acad. Sci., April 1, 2004; 1011(1): 332 - 338. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. Y. Park, I. Chang, J.-Y. Kim, S. W. Kang, S.-H. Park, K. Singh, and M.-S. Lee Resistance of Mitochondrial DNA-depleted Cells against Cell Death: ROLE OF MITOCHONDRIAL SUPEROXIDE DISMUTASE J. Biol. Chem., February 27, 2004; 279(9): 7512 - 7520. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. Carlisle, C. A. Rhoads, T. Y. Aw, and L. Harrison Endothelial cells maintain a reduced redox environment even as mitochondrial function declines Am J Physiol Cell Physiol, December 1, 2002; 283(6): C1675 - C1686. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y.-H. Wei and H.-C. Lee Oxidative Stress, Mitochondrial DNA Mutation, and Impairment of Antioxidant Enzymes in Aging Experimental Biology and Medicine, October 1, 2002; 227(9): 671 - 682. [Abstract] [Full Text] [PDF] |
||||
![]() |
H.D. Lohrer, L. Hieber, and H. Zitzelsberger Differential mutation frequency in mitochondrial DNA from thyroid tumours Carcinogenesis, October 1, 2002; 23(10): 1577 - 1582. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. W. Ballinger, C. Patterson, C. A. Knight-Lozano, D. L. Burow, C. A. Conklin, Z. Hu, J. Reuf, C. Horaist, R. Lebovitz, G. C. Hunter, et al. Mitochondrial Integrity and Function in Atherogenesis Circulation, July 30, 2002; 106(5): 544 - 549. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. W. Dobson, V. Grishko, S. P. LeDoux, M. R. Kelley, G. L. Wilson, and M. N. Gillespie Enhanced mtDNA repair capacity protects pulmonary artery endothelial cells from oxidant-mediated death Am J Physiol Lung Cell Mol Physiol, July 1, 2002; 283(1): L205 - L210. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. O'Connell, N. McClure, and S.E.M. Lewis A comparison of mitochondrial and nuclear DNA status in testicular sperm from fertile men and those with obstructive azoospermia Hum. Reprod., June 1, 2002; 17(6): 1571 - 1577. [Abstract] [Full Text] [PDF] |
||||
![]() |
J. AIKEN, E. BUA, Z. CAO, M. LOPEZ, J. WANAGAT, D. McKENZIE, and S. McKIERNAN Mitochondrial DNA Deletion Mutations and Sarcopenia Ann. N.Y. Acad. Sci., April 1, 2002; 959(1): 412 - 423. [Abstract] [Full Text] [PDF] |
||||
![]() |
Z. Cao, J. Wanagat, S. H. McKiernan, and J. M. Aiken Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissection Nucleic Acids Res., November 1, 2001; 29(21): 4502 - 4508. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. W. Taylor, G. A. Taylor, S. E. Durham, and D. M. Turnbull The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations Nucleic Acids Res., August 1, 2001; 29(15): e74 - e74. [Abstract] [Full Text] [PDF] |
||||
![]() |
V. Grishko, M. Solomon, G. L. Wilson, S. P. LeDoux, and M. N. Gillespie Oxygen radical-induced mitochondrial DNA damage and repair in pulmonary vascular endothelial cell phenotypes Am J Physiol Lung Cell Mol Physiol, June 1, 2001; 280(6): L1300 - L1308. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. D. Bodyak, E. Nekhaeva, J. Y. Wei, and K. Khrapko Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues Hum. Mol. Genet., January 1, 2001; 10(1): 17 - 24. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. G. Murdock, N. C. Christacos, and D. C. Wallace The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method Nucleic Acids Res., November 1, 2000; 28(21): 4350 - 4355. [Abstract] [Full Text] [PDF] |
||||
![]() |
Ỏs. Miro, J. Casademont, E. Casals, M. Perea, A. Urbano-Marquez, P. Rustin, and F. Cardellach Aging is associated with increased lipid peroxidation in human hearts, but not with mitochondrial respiratory chain enzyme defects Cardiovasc Res, August 18, 2000; 47(3): 624 - 631. [Abstract] [Full Text] [PDF] |
||||
![]() |
D. A. COTTRELL, E. L. BLAKELY, G. M. BORTHWICK, M. A. JOHNSON, G. A. TAYLOR, E. J. BRIERLEY, P. G. INCE, and D. M. TURNBULL Role of Mitochondrial DNA Mutations in Disease and Aging Ann. N.Y. Acad. Sci., June 1, 2000; 908(1): 199 - 207. [Abstract] [Full Text] [PDF] |
||||
![]() |
I. Trounce, J. Schmiedel, H.-C. Yen, S. Hosseini, M. D. Brown, J. J. Olson, and D. C. Wallace Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells Nucleic Acids Res., May 15, 2000; 28(10): 2164 - 2170. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. W. Ballinger, C. Patterson, C.-N. Yan, R. Doan, D. L. Burow, C. G. Young, F. M. Yakes, B. Van Houten, C. A. Ballinger, B. A. Freeman, et al. Hydrogen Peroxide- and Peroxynitrite-Induced Mitochondrial DNA Damage and Dysfunction in Vascular Endothelial and Smooth Muscle Cells Circ. Res., May 12, 2000; 86(9): 960 - 966. [Abstract] [Full Text] [PDF] |
||||
![]() |
N. K. Fukagawa Aging: Is Oxidative Stress a Marker or Is It Causal? Experimental Biology and Medicine, December 1, 1999; 222(3): 293 - 298. [Abstract] [Full Text] |
||||
![]() |
J. A. Barritt, C. A. Brenner, J. Cohen, and D. W. Matt Mitochondrial DNA rearrangements in human oocytes and embryos Mol. Hum. Reprod., October 1, 1999; 5(10): 927 - 933. [Abstract] [Full Text] [PDF] |
||||
![]() |
A.-R. Moslemi, A. Melberg, E. Holme, and A. Oldfors Autosomal dominant progressive external ophthalmoplegia: Distribution of multiple mitochondrial DNA deletions Neurology, July 1, 1999; 53(1): 79 - 79. [Abstract] [Full Text] |
||||
![]() |
T. OZAWA Mitochondrial DNA Mutations and Age Ann. N.Y. Acad. Sci., November 20, 1998; 854(1): 128 - 154. [Abstract] [Full Text] [PDF] |
||||
![]() |
Y.-H. WEI, C.-Y. LU, H.-C. LEE, C.-Y. PANG, and Y.-S. MA Oxidative Damage and Mutation to Mitochondrial DNA and Age-dependent Decline of Mitochondrial Respiratory Function Ann. N.Y. Acad. Sci., November 20, 1998; 854(1): 155 - 170. [Abstract] [Full Text] [PDF] |
||||
![]() |
C. M. LEE, L. E. ASPNES, S. S. CHUNG, R. WEINDRUCH, and J. M. AIKEN Influences of Caloric Restriction on Age-associated Skeletal Muscle Fiber Characteristics and Mitochondrial Changes in Rats and Mice Ann. N.Y. Acad. Sci., November 20, 1998; 854(1): 182 - 191. [Abstract] [Full Text] [PDF] |
||||
![]() |
A. W. LINNANE, S. KOVALENKO, and E. B. GINGOLD The Universality of Bioenergetic Disease: Age-associated Cellular Bioenergetic Degradation and Amelioration Therapy Ann. N.Y. Acad. Sci., November 20, 1998; 854(1): 202 - 213. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. B. BECKMAN and B. N. AMES The Free Radical Theory of Aging Matures Physiol Rev, April 1, 1998; 78(2): 547 - 581. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Khrapko, H. A. Coller, P. C. Andre, X.-C. Li, J. S. Hanekamp, and W. G. Thilly Mitochondrial mutational spectra in human cells and tissues PNAS, December 9, 1997; 94(25): 13798 - 13803. [Abstract] [Full Text] [PDF] |
||||
![]() |
K. Inoue, S. Ito, D. Takai, A. Soejima, H. Shisa, J.-B. LePecq, E. Segal-Bendirdjian, Y. Kagawa, and J.-I. Hayashi Isolation of Mitochondrial DNA-less Mouse Cell Lines and Their Application for Trapping Mouse Synaptosomal Mitochondrial DNA with Deletion Mutations J. Biol. Chem., June 13, 1997; 272(24): 15510 - 15515. [Abstract] [Full Text] [PDF] |
||||
![]() |
M. N. Sack, T. A. Rader, S. Park, J. Bastin, S. A. McCune, and D. P. Kelly Fatty Acid Oxidation Enzyme Gene Expression Is Downregulated in the Failing Heart Circulation, December 1, 1996; 94(11): 2837 - 2842. [Abstract] [Full Text] |
||||
![]() |
K. A. Laderman, J. R. Penny, F. Mazzucchelli, N. Bresolin, G. Scarlato, and G. Attardi Aging-dependent Functional Alterations of Mitochondrial DNA (mtDNA) from Human Fibroblasts Transferred into mtDNA-less Cells J. Biol. Chem., July 5, 1996; 271(27): 15891 - 15897. [Abstract] [Full Text] [PDF] |
||||
![]() |
S. M. Tanhauser and P. J. Laipis Multiple Deletions Are Detectable in Mitochondrial DNA of Aging Mice J. Biol. Chem., October 20, 1995; 270(42): 24769 - 24775. [Abstract] [Full Text] [PDF] |
||||
![]() |
R. S. Williams Cardiac Involvement in Mitochondrial Diseases, and Vice Versa Circulation, February 15, 1995; 91(4): 1266 - 1268. [Full Text] |
||||
![]() |
D. Wallace Mitochondrial genetics: a paradigm for aging and degenerative diseases? Science, May 1, 1992; 256(5057): 628 - 632. [Abstract] [PDF] |
||||





















