Mitochondrial DNA deletions in Alzheimer's brains: A review

Alzheimer's and Dementia

Volumn 10, Issue 3, 2014, Pages 393-400

  Phillips, Nicole R ^a   Simpkins, James W ^b,c   Roby, Rhonda K ^a  

^a UNIVERSITY OF NORTH TEXAS   (United States)

^b WEST VIRGINIA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WEST VIRGINIA UNIVERSITY   (United States)

Author keywords

Alzheimer's disease; DNA damage; Mitochondrial DNA deletion; Neurodegeneration; Oxidative stress

Indexed keywords

MITOCHONDRIAL DNA;

ALZHEIMER DISEASE; ARTICLE; DISEASE COURSE; DNA DAMAGE; DNA DETERMINATION; GENE DELETION; HUMAN; INCIDENCE; NONHUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; ANIMAL; BRAIN; GENETICS; METABOLISM;

ALZHEIMER DISEASE; ANIMALS; BRAIN; DNA, MITOCHONDRIAL; HUMANS; SEQUENCE DELETION;

EID: 84899512173     PISSN: 15525260     EISSN: 15525279     Source Type: Journal    
DOI: 10.1016/j.jalz.2013.04.508     Document Type: Review

References (71)

1. Chen H, Chan DC. Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases. Hum Mol Genet 2009;18:R169-76.
2. Tamura Y, Iijima M, Sesaki H. Mitochondrial dynamics: fusion and division. Regulation of organelle and cell compartment signaling. 1st ed. San Diego, CA: Academic Press,; 2011; p. 399-404.
3. Twig G, Shirihai OS. The interplay between mitochondrial dynamics and mitophagy. Antioxid Redox Sign 2011;14:1939-51.
4. Stiles L, Shirihai OS. Mitochondrial dynamics and morphology in beta-cells. Best Pract Res Clin Endocrinol Metab 2012;26:725-38.
5. Collins TJ, Berridge MJ, Lipp P, Bootman MD. Mitochondria are morphologically and functionally heterogeneous within cells. EMBO J 2002;21:1616-27.
6. Westerman B. Mitochondrial fusion and fission in cell life and death. Nat Rev Mol Cell Biol 2010;11:872-84.
7. Youle RJ, Narendra DP. Mechanisms of mitophagy. Mat Rev Mol Cell Biol 2010;12:9-14.
8. Gray MW, Burger G, Lang BF. The origin and early evolution of mitochondria. Genome Biol 2001;2:1018.1-5.
9. Clay Montier LL, Deng JJ, Bai Y. Number matters: control of mammalian mitochondrial DNA copy number. J Genet Genomics 2009; 36:125-31.
10. Gianotti TF, Castano G, Gemma C, Burgueno AL, Rosselli MS, Pirola CJ, et al. Mitochondrial DNA copy number is modulated by genetic variation in the signal transducer and activator of transcription 3 (STAT3). Metab Clin Exp 2011;60:1142-9.
11. Vidoni S, Zanna C, Rugolo M, Sarzi E, Lenaers G. Why mitochondria must fuse to maintain their genome integrity. Antioxid Redox Sign 2013;19:1-9.
12. Cummins JM, Wakayama T, Yanagimachi R. Fate of microinjected spermatid mitochondria in the mouse oocyte and embryo. Zygote 1998;6:213-22.
13. Shitara H, Kaneda H, Sato A, Inoue K, Ogura A, Yonekawa H, et al. Selective and continuous elimination of mitochondria microinjected into mouse eggs from spermatids, but not from liver cells, occurs throughout embryogenesis. Genetics 2000;156:1277-84.
14. Calvo SE, Mootha VK. The mitochondrial proteome and human disease. Annu Rev Genomics Hum Genet 2010;11:25-44.
15. Wang G, Chen HW, Oktay Y, Zhang J, Allen EL, Smith GM, et al. PNPase regulates RNA import into mitochondria. Cell 2010; 142:456-67.
16. Kowaltowski AJ, de Souza-Pinto NC, Castilho RF, Vercesi AE. Mitochondria and reactive oxygen species. Free Radical Biol Med 2009; 47:333-43.
17. Brown GC, Borutaite V. There is no evidence that mitochondria are the main source of reactive oxygen species in mammalian cells. Mitochondrion 2011;12:1-4.
18. Croteau DL, Stierum RH, Bohr VA. Mitochondrial DNA repair pathways. Mutat Res 1999;434:137-48.
19. Yakes FM, 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 U S A 1997;94:514-9.
20. Richter C, Park JW, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci U S A 1988; 85:6465-7.
21. Choi YS, Jeong JH, Min HK, Jung HJ, Hwang D, Lee SW, et al. Shotgun proteomic analysis of mitochondrial D-loop DNA binding proteins: identification of mitochondrial histones. Mol Biosyst 2011; 7:1523-36.
22. Liu P, Demple B. DNA repair in mammalian mitochondria: much more than we thought? Environ Mol Mutagen 2010;51:417-26.
23. Loft S, Poulsen H. Cancer risk and oxidative DNA damage in man. J Mol Med 1996;74:297-312.
24. Wiseman H, Halliwell B. Damage to DNA by reactive oxygen and nitrogen species: role in inflammatory disease and progression to cancer. Biochem J 1996;313:17-29.
25. Cooke MS, Evans MD, Dizdaroglu M, Lunec J. Oxidative DNA damage: mechanisms, mutation, and disease. FASEB 2003; 17:1195-214.
26. Quebec M, Cenettlsr H, McGill P,West M. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 1996;14:146-51.
27. Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. Am J Hum Genet 2001;68:802-6.
28. Suissa S, Wang Z, Poole J, Wittkopp S, Feder J, Shutt TE, et al. Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Gen 2009;5:e1000474.
29. Schon EA, DiMauro S, Hirano M. Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet 2012;13:878-90.
30. Silver I, Erecinska M. Oxygen and ion concentrations in normoxic and hypoxic brain cells. Adv Exp Med Biol 1998;454:7-16.
31. Ames A. CNS energy metabolism as related to function. Brain Res Rev 2000;34:42-68.
32. Schon EA, Przedborski S. Mitochondria: the next (neurode) generation. Neuron 2011;70:1033-53.
33. Karbowski M, Neutzner A. Neurodegeneration as a consequence of failed mitochondrial maintenance. Acta Neurol 2012;123:157-71.
34. Moreira PI, Carvalho C, Zhu X, Smith MA, Perry G. Mitochondrial dysfunction is a trigger of Alzheimer's disease pathophysiology. Biochim Biophys Acta 2010;1802:2-10.
35. Swerdlow RH, Khan SM. A "mitochondrial cascade hypothesis" for sporadic Alzheimer's disease. Med Hypotheses 2004;63:8-20.
36. Swerdlow RH, Khan SM. The Alzheimer's disease mitochondrial cascade hypothesis: an update. Exp Neurol 2009;218:308-15.
37. Swerdlow RH, Burns JM, Khan SM. The Alzheimer's disease mitochondrial cascade hypothesis. J Alzheimers Dis 2010;20:265-79.
38. Mancuso M, Calsolaro V, Orsucci D, Siciliano G, Murri L. Is there a primary role of the mitochondrial genome in Alzheimer's disease? J Bioenerg Biomembr 2009;41:411-6.
39. Wei YH. Mitochondrial DNA alterations as ageing-associated molecular events. Mutat Res 1992;275:145-55.
40. Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M, DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989;244:346-9.
41. Blanchard BJ, Park T, Fripp WJ, Lerman LS, Ingram VM.Amitochondrial DNA deletion in normally aging and in Alzheimer brain tissue. Neuroreport 1993;4:799-802.
42. Fukui H, Moraes CT. Mechanisms of formation and accumulation of mitochondrial DNA deletions in aging neurons. Hum Mol Genet 2009;18:1028-36.
43. Holt I, Harding A, Morgan-Hughes J. Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. Nucl Acids Res 1989;17:4465-9.
44. Mita S, Rizzuto R, Moraes CT, Shanske S, Arnaudo E, Fabrizi GM, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucl Acids Res 1990;18:561-7.
45. Degoul F, Nelson I, Lestienne P, Francois D, Romero N, Duboc D, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. J Neurol Sci 1991;101:168-77.
46. Krishnan KJ, Reeve AK, Samuels DC, Chinnery PF, Blackwood JK, Taylor RW, et al. What causes mitochondrial DNA deletions in human cells? Nat Genet 2008;40:275-9.
47. Srivastava S, Moraes CT. Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans. Hum Mol Genet 2005;14:893-902.
48. Sadikovic B, Wang J, El-Hattab A, Landsverk M, Douglas G, Brundage EK, et al. Sequence homology at the breakpoint and clinical phenotype of mitochondrialDNAdeletion syndromes. PloS One 2010; 5:e15687.
49. Chen T, He J, Huang Y, Zhao W. The generation of mitochondrial DNA large-scale deletions in human cells. J Hum Genet 2011; 56:689-94.
50. Copeland WC. Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol 2012;47:64-74.
51. Payne BAI, Wilson IJ, Hateley CA, Horvath R, Santibanez-Koref M, Samuels DC, et al. Mitochondrial aging is accelerated by antiretroviral therapy through the clonal expansion of mtDNA mutations. Nat Genet 2011;43:806-10.
52. Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, McKee AC, Beal MF, et al. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 1994;23:471-6.
53. Hamblet NS, Castora FJ. Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients. Mutat Res 1997;379:253-62.
54. Lezza A, Mecocci P, Cormio A, Cherubini A, Flint Beal M, Cantatore P, et al. Low levels of 4977bp-deleted molecules of mitochondrial DNA in the presence of high OH8dG contents in healthy subjects and Alzheimer's disease patients. Ann N Y Acad Sci 1998; 854:494.
55. Hirai K, Smith M,Wade R, Perry G. Vulnerable neurons in Alzheimer disease accumulate mitochondrial DNA with the common 5kb deletion. J Neuropathol Exp Neurol 1998;57:511.
56. Guo W, Jiang L, Bhasin S, Khan SM, Swerdlow RH. DNA extraction procedures meaningfully influence qPCR-based mtDNA copy number determination. Mitochondrion 2009;9:261-5.
57. Hirai K, Aliev G, Nunomura A, Fujioka H, Russell RL, Atwood CS, et al. Mitochondrial abnormalities in Alzheimer's disease. J Neurosci 2001;21:3017-23.
58. Aliyev A, Chen SG, Seyidova D, Smith MA, Perry G, de la Torre J, et al. Mitochondria DNA deletions in atherosclerotic hypoperfused brain microvessels as a primary target for the development of Alzheimer's disease. J Neurol Sci 2005;229-230:285-92.
59. Aliev G, Gasimov E, Obrenovich ME, Fischbach K, Shenk JC, Smith MA, et al. Atherosclerotic lesions and mitochondria DNA deletions in brain microvessels: implication in the pathogenesis of Alzheimer's disease. Vasc Health Risk Manag 2008;4:721-30.
60. Bender A, Schwarzkopf RM, McMillan A, Krishnan KJ, Rieder G, Neumann M, et al. Dopaminergic midbrain neurons are the prime target for mitochondrial DNA deletions. J Neurol 2008;255:1231-5.
61. Bender A, Krishnan KJ, Morris CM, Taylor GA, Reeve AK, Perry RH, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet 2006; 38:515-7.
62. Blokhin A, Vyshkina T, Komoly S, Kalman B. Lack of mitochondrial DNA deletions in lesions of multiple sclerosis. Neuromol Med 2008; 10:187-94.
63. Krishnan KJ, Ratnaike TE, Gruyter HLMD, Jaros E, Turnbull DM. Mitochondrial DNA deletions cause the biochemical defect observed in Alzheimer's disease. Neurobiol Aging 2011;33:2210-4.
64. Gredilla R,Weissman L, Yang J, Bohr VA, Stevnsner T. Mitochondrial base excision repair in mouse synaptosomes during normal aging and in a model of Alzheimer's disease. Neurobiol Aging 2012; 33:694-707.
65. Gredilla R, Garm C, Holm R, Bohr VA, Stevnsner T. Differential agerelated changes in mitochondrial DNA repair activities in mouse brain regions. Neurobiol Aging 2010;31:993-1002.
66. Scheffler K, Krohn M, Dunkelmann T, Stenzel J, Miroux B, Ibrahim S, et al. Mitochondrial DNA polymorphisms specifically modify cerebral b-amyloid proteostasis. Acta Neuropathol 2012;124:1-10.
67. Gu G, Reyes PF, Golden GT,Woltjer RL, Hulette C, Montine TJ, et al. Mitochondrial DNA deletions/rearrangements in Parkinson disease and related neurodegenerative disorders. J Neuropathol Exp Neurol 2002;61:634-9.
68. Holzer M, Holzapfel HP, Zedlick D, Bruckner M, Arendt T. Abnormally phosphorylated tau protein in Alzheimer's disease: heterogeneity of individual regional distribution and relationship to clinical severity. Neuroscience 1994;63:499-516.
69. Armstrong RA, Nochlin D, Bird TD. Neuropathological heterogeneity in Alzheimer's disease: a study of 80 cases using principal components analysis. Neuropathology 2000;20:31-7.
70. Raz N, Lindenberger U, Rodrigue KM, Kennedy KM, Head D, Williamson A, et al. Regional brain changes in aging healthy adults: general trends, individual differences and modifiers. Cereb Cortex 2005;15:1676-89.
71. Reitz C, Mayeux R. Endophenotypes in normal brain morphology and Alzheimer's disease: a review. Neuroscience 2009;164:174-90.