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Ranieri M, Brajkovic S, Riboldi G, et al. Mitochondrial fusion proteins and human diseases. Neurol Res Int. 2013;2013:293893doi: 10.1155/2013/293893.
Ranieri, M., Brajkovic, S., Riboldi, G., Ronchi, D., Rizzo, F., Bresolin, N., Corti, S., & Comi, G. P. (2013). Mitochondrial fusion proteins and human diseases. Neurology research international, 2013293893. https://doi.org/10.1155/2013/293893
Ranieri, Michela, et al. "Mitochondrial fusion proteins and human diseases." Neurology research international vol. 2013 (2013): 293893. doi: https://doi.org/10.1155/2013/293893
Ranieri M, Brajkovic S, Riboldi G, Ronchi D, Rizzo F, Bresolin N, Corti S, Comi GP. Mitochondrial fusion proteins and human diseases. Neurol Res Int. 2013;2013:293893. doi: 10.1155/2013/293893. Epub 2013 May 27. PMID: 23781337; PMCID: PMC3678461.
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Neurol Res Int. 2013;2013:293893. doi: 10.1155/2013/293893. Epub 2013 May 27.

Mitochondrial fusion proteins and human diseases.

Neurology research international

Michela Ranieri, Simona Brajkovic, Giulietta Riboldi, Dario Ronchi, Federica Rizzo, Nereo Bresolin, Stefania Corti, Giacomo P Comi

Affiliations

  1. Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via F. Sforza 35, 20122 Milan, Italy.

PMID: 23781337 PMCID: PMC3678461 DOI: 10.1155/2013/293893

Abstract

Mitochondria are highly dynamic, complex organelles that continuously alter their shape, ranging between two opposite processes, fission and fusion, in response to several stimuli and the metabolic demands of the cell. Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. While these disorders can still be considered rare, defective mitochondrial dynamics seem to play a significant role in the molecular and cellular pathogenesis of more common neurodegenerative diseases, for example, Alzheimer's and Parkinson's diseases. This review provides an overview of the basic molecular mechanisms involved in mitochondrial fusion and focuses on the alteration in mitochondrial DNA amount resulting from impairment of mitochondrial dynamics. We also review the literature describing the main disorders associated with the disruption of mitochondrial fusion.

References

  1. J Cell Biol. 2007 Aug 27;178(5):749-55 - PubMed
  2. Brain. 2008 Feb;131(Pt 2):338-51 - PubMed
  3. Nat Cell Biol. 1999 Sep;1(5):298-304 - PubMed
  4. Exp Neurol. 2008 May;211(1):115-27 - PubMed
  5. J Neurosci. 2012 Mar 21;32(12):4145-55 - PubMed
  6. Mitochondrion. 2012 Jul;12(4):428-37 - PubMed
  7. Mol Cell Biol. 1994 Apr;14(4):2699-712 - PubMed
  8. Biochim Biophys Acta. 1998 May 28;1371(2):185-98 - PubMed
  9. Nature. 2008 Dec 4;456(7222):605-10 - PubMed
  10. Hum Mol Genet. 2012 Nov 15;21(22):4817-26 - PubMed
  11. Biochem Biophys Res Commun. 1968 Feb 26;30(4):368-72 - PubMed
  12. Cell Death Dis. 2011 Dec 08;2:e240 - PubMed
  13. Mol Genet Metab. 2002 Jul;76(3):201-6 - PubMed
  14. Circ Res. 2011 Dec 9;109(12):1327-31 - PubMed
  15. Hum Mol Genet. 2010 Dec 15;19(24):4861-70 - PubMed
  16. Biochem Biophys Res Commun. 2010 Sep 3;399(4):548-54 - PubMed
  17. Methods Mol Biol. 2007;372:461-6 - PubMed
  18. Genes Cells. 2011 May;16(5):527-44 - PubMed
  19. J Cell Biol. 2007 Feb 12;176(4):405-14 - PubMed
  20. Nat Rev Mol Cell Biol. 2011 Jan;12(1):9-14 - PubMed
  21. Mol Biol Cell. 2007 Sep;18(9):3582-90 - PubMed
  22. J Biol Chem. 2003 Mar 7;278(10):7743-6 - PubMed
  23. Brain. 2012 Nov;135(Pt 11):3404-15 - PubMed
  24. Hum Mol Genet. 2010 Oct 15;19(20):3919-35 - PubMed
  25. EMBO Rep. 2011 Jun;12(6):565-73 - PubMed
  26. J Biochem. 1997 Sep;122(3):525-30 - PubMed
  27. PLoS One. 2011;6(5):e20655 - PubMed
  28. Am J Ophthalmol. 2003 Oct;136(4):670-7 - PubMed
  29. Cell Death Differ. 2013 Feb;20(2):353-65 - PubMed
  30. J Neurochem. 1996 Dec;67(6):2282-91 - PubMed
  31. Hum Mol Genet. 2012 Jan 1;21(1):66-75 - PubMed
  32. Nat Cell Biol. 2004 Sep;6(9):872-83 - PubMed
  33. Neurogenetics. 2001 Jul;3(3):119-25 - PubMed
  34. Science. 2012 Aug 31;337(6098):1062-5 - PubMed
  35. J Biol Chem. 2004 Apr 30;279(18):18792-8 - PubMed
  36. J Neurosci. 1992 May;12(5):1882-95 - PubMed
  37. J Biol Chem. 2011 Jan 28;286(4):2918-32 - PubMed
  38. Mol Biol Cell. 2001 Aug;12(8):2245-56 - PubMed
  39. Mol Biol Cell. 1997 Jul;8(7):1233-42 - PubMed
  40. Brain. 2011 Apr;134(Pt 4):e164 - PubMed
  41. Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65 - PubMed
  42. Hum Mol Genet. 2012 Jun 1;21(11):2538-47 - PubMed
  43. Science. 2004 Sep 17;305(5691):1747-52 - PubMed
  44. Hum Mol Genet. 2012 Nov 15;21(22):4827-35 - PubMed
  45. J Cell Sci. 1998 May;111 ( Pt 10):1341-9 - PubMed
  46. Hum Mol Genet. 1997 Apr;6(4):563-9 - PubMed
  47. Brain Pathol. 1992 Apr;2(2):141-7 - PubMed
  48. Antioxid Redox Signal. 2013 Aug 1;19(4):389-99 - PubMed
  49. J Med Genet. 2004 Sep;41(9):e110 - PubMed
  50. J Neurosci. 2009 Jul 15;29(28):9090-103 - PubMed
  51. Hum Mol Genet. 2011 Jul 1;20(13):2495-509 - PubMed
  52. Arch Neurol. 2009 Dec;66(12):1511-6 - PubMed
  53. Nat Genet. 2000 Oct;26(2):211-5 - PubMed
  54. Nat Genet. 2013 Feb;45(2):214-9 - PubMed
  55. J Cell Sci. 2011 May 1;124(Pt 9):1403-10 - PubMed
  56. Brain. 2006 Aug;129(Pt 8):2103-18 - PubMed
  57. Hum Mutat. 2005 May;25(5):423-8 - PubMed
  58. J Biol Chem. 2011 Feb 11;286(6):4772-82 - PubMed
  59. Brain. 2006 Aug;129(Pt 8):2093-102 - PubMed
  60. Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15927-32 - PubMed
  61. J Cell Biol. 2010 Dec 13;191(6):1141-58 - PubMed
  62. Am J Hum Genet. 2009 Aug;85(2):290-5 - PubMed
  63. Am J Hum Genet. 2001 Dec;69(6):1218-24 - PubMed
  64. Brain. 2012 Jan;135(Pt 1):23-34 - PubMed
  65. Science. 1999 Mar 5;283(5407):1493-7 - PubMed
  66. Rev Neurol (Paris). 1961 May;104:373-9 - PubMed
  67. Brain. 2012 Aug;135(Pt 8):e219, 1-3; author reply e220, 1-3 - PubMed
  68. J Cell Sci. 2011 Apr 1;124(Pt 7):1126-35 - PubMed
  69. Ann Neurol. 2006 Feb;59(2):276-81 - PubMed
  70. Brain. 2008 Feb;131(Pt 2):329-37 - PubMed
  71. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R244-52 - PubMed
  72. Brain. 2010 Mar;133(Pt 3):771-86 - PubMed
  73. Arch Neurol. 2000 May;57(5):638-40 - PubMed
  74. Biochem Biophys Res Commun. 2003 Feb 21;301(4):891-8 - PubMed
  75. Brain. 1980 Jun;103(2):259-80 - PubMed
  76. Neurology. 2005 Aug 9;65(3):496-7 - PubMed
  77. Science. 2004 Aug 6;305(5685):858-62 - PubMed
  78. Am J Hum Genet. 2013 Feb 7;92(2):293-300 - PubMed
  79. Nature. 1998 Apr 9;392(6676):605-8 - PubMed
  80. Neurology. 2008 Mar 25;70(13 Pt 2):1152-3 - PubMed
  81. Biochim Biophys Acta. 2012 Feb;1822(2):101-10 - PubMed
  82. Acta Ophthalmol Suppl. 1959;164(Supp 54):1-147 - PubMed
  83. J Am Heart Assoc. 2012 Oct;1(5):e003012 - PubMed
  84. J Neurol Neurosurg Psychiatry. 1996 Feb;60(2):195-6 - PubMed
  85. Mol Pharmacol. 1989 Jul;36(1):106-12 - PubMed
  86. Arch Neurol. 2011 Jan;68(1):67-73 - PubMed
  87. Nat Med. 2001 Aug;7(8):934-40 - PubMed
  88. Microsc Res Tech. 1994 Feb 15;27(3):198-219 - PubMed
  89. Neurology. 2011 Jul 12;77(2):168-73 - PubMed
  90. Cell Mol Life Sci. 2010 Aug;67(16):2839-50 - PubMed
  91. J Alzheimers Dis. 2001 Apr;3(2):181-190 - PubMed
  92. Cell. 1997 Jul 11;90(1):121-9 - PubMed
  93. Mol Biol Cell. 2002 Dec;13(12):4343-54 - PubMed
  94. Mol Biol Cell. 2009 Aug;20(15):3525-32 - PubMed
  95. Mol Genet Metab. 2010 Jun;100(2):149-54 - PubMed
  96. Environ Mol Mutagen. 2010 Jun;51(5):440-50 - PubMed
  97. Neurology. 2012 May 15;78(20):1612-9 - PubMed
  98. Am J Physiol Regul Integr Comp Physiol. 2011 Jun;300(6):R1296-302 - PubMed
  99. J Cell Biol. 2010 Dec 27;191(7):1367-80 - PubMed
  100. EMBO J. 2006 Jul 12;25(13):2966-77 - PubMed
  101. Annu Rev Biochem. 2010;79:683-706 - PubMed
  102. J Biol Chem. 2003 May 9;278(19):17190-7 - PubMed
  103. Mol Cell. 1999 Nov;4(5):815-26 - PubMed
  104. Acta Neuropathol. 2013 Feb;125(2):245-56 - PubMed
  105. Nat Genet. 2004 May;36(5):449-51 - PubMed
  106. Hum Genet. 2005 Jan;116(1-2):23-7 - PubMed
  107. Cell Mol Life Sci. 2010 Oct;67(20):3435-47 - PubMed
  108. Semin Cell Dev Biol. 2010 Aug;21(6):566-74 - PubMed
  109. Cell Signal. 2011 Oct;23(10):1534-45 - PubMed
  110. Cell. 2010 Apr 16;141(2):280-9 - PubMed
  111. Mol Cell Biol. 2011 Mar;31(6):1309-28 - PubMed

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