Display options
Cite
Mazzoccoli G, Mazza T, Vinciguerra M, et al. The biological clock and the molecular basis of lysosomal storage diseases. JIMD Rep. 2015;18:93-105doi: 10.1007/8904_2014_354.
Mazzoccoli, G., Mazza, T., Vinciguerra, M., Castellana, S., & Scarpa, M. (2015). The biological clock and the molecular basis of lysosomal storage diseases. JIMD reports, 1893-105. https://doi.org/10.1007/8904_2014_354
Mazzoccoli, Gianluigi, et al. "The biological clock and the molecular basis of lysosomal storage diseases." JIMD reports vol. 18 (2015): 93-105. doi: https://doi.org/10.1007/8904_2014_354
Mazzoccoli G, Mazza T, Vinciguerra M, Castellana S, Scarpa M. The biological clock and the molecular basis of lysosomal storage diseases. JIMD Rep. 2015;18:93-105. doi: 10.1007/8904_2014_354. Epub 2015 Jan 13. PMID: 25583520; PMCID: PMC4361918.
Copy Download .nbib Format: NLM
Share it on

JIMD Rep. 2015;18:93-105. doi: 10.1007/8904_2014_354. Epub 2015 Jan 13.

The biological clock and the molecular basis of lysosomal storage diseases.

JIMD reports

Gianluigi Mazzoccoli, Tommaso Mazza, Manlio Vinciguerra, Stefano Castellana, Maurizio Scarpa

Affiliations

  1. Division of Internal Medicine and Chronobiology Unit, Department of Medical Sciences, IRCCS Scientific Institute and Regional General Hospital "Casa Sollievo della Sofferenza", S.Giovanni Rotondo, (FG), Italy, [email protected].

PMID: 25583520 PMCID: PMC4361918 DOI: 10.1007/8904_2014_354

Abstract

The lysosomal storage disorders encompass nearly fifty diseases provoked by lack or deficiency of enzymes essential for the breakdown of complex molecules and hallmarked by accumulation in the lysosomes of metabolic residues. Histochemistry and cytochemistry studies evidenced patterns of circadian variation of the lysosomal marker enzymes, suggesting that lysosomal function oscillates rhythmically during the 24-h day. The circadian rhythmicity of cellular processes is driven by the biological clock ticking through transcriptional/translational feedback loops hardwired by circadian genes and proteins. Malfunction of the molecular clockwork may provoke severe deregulation of downstream gene expression regulating a complex array of cellular functions leading to anatomical and functional changes. In this review we highlight that all the genes mutated in lysosomal storage disorders encode circadian transcripts suggesting a direct participation of the biological clock in the pathophysiological mechanisms underlying cellular and tissue derangements hallmarking these hereditary diseases. The 24-h periodicity of oscillation of gene transcription and translation could lead in physiological conditions to circadian rhythmicity of fluctuation of enzyme levels and activity, so that gene transfer could be envisaged to reproduce 24-h periodicity of variation of enzymatic dynamics and circadian rhythmicity could have an impact on the schedule of enzyme replacement therapy.

References

  1. Chronobiol Int. 2013 Aug;30(7):870-88 - PubMed
  2. BMC Cancer. 2010 Jun 21;10:314 - PubMed
  3. Science. 2010 Dec 3;330(6009):1349-54 - PubMed
  4. Curr Opin Lipidol. 2009 Apr;20(2):98-105 - PubMed
  5. J Biol Regul Homeost Agents. 2012 Apr-Jun;26(2):303-11 - PubMed
  6. J Biol Rhythms. 2006 Dec;21(6):458-69 - PubMed
  7. Nephrol Dial Transplant. 2013 Oct;28(10):2421-31 - PubMed
  8. EMBO J. 2011 Sep 06;30(22):4642-51 - PubMed
  9. Science. 1972 Jan 14;175(4018):176-9 - PubMed
  10. Science. 2009 May 1;324(5927):651-4 - PubMed
  11. Biochim Biophys Acta. 2009 Apr;1793(4):684-96 - PubMed
  12. J Biol Regul Homeost Agents. 2013 Jan-Mar;27(1):9-22 - PubMed
  13. Endocrinology. 2007 Dec;148(12):5648-55 - PubMed
  14. Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1554-9 - PubMed
  15. Histochemistry. 1981 Dec;73(3):321-37 - PubMed
  16. Cell. 2008 Jul 25;134(2):329-40 - PubMed
  17. FEBS Lett. 2011 Jun 6;585(11):1640-50 - PubMed
  18. Chronobiol Int. 2009 Dec;26(8):1479-513 - PubMed
  19. J Biol Regul Homeost Agents. 2011 Jan-Mar;25(1):137-43 - PubMed
  20. Cell Cycle. 2008 Dec;7(23):3669-79 - PubMed
  21. J Biol Chem. 2010 Jul 2;285(27):20423-7 - PubMed
  22. Chronobiol Int. 2012 Dec;29(10):1300-11 - PubMed
  23. Cell. 2006 May 5;125(3):497-508 - PubMed
  24. Autophagy. 2012 Jan;8(1):124-5 - PubMed
  25. BMC Med Genomics. 2013 Oct 02;6:37 - PubMed
  26. Cell. 2006 Aug 25;126(4):801-10 - PubMed
  27. Clin Exp Med. 2014 May;14(2):133-40 - PubMed
  28. J Inherit Metab Dis. 2010 Aug;33(4):347-62 - PubMed
  29. Prog Clin Biol Res. 1981;59C(00):117-24 - PubMed
  30. Nature. 2012 Nov 15;491(7424):348-56 - PubMed
  31. J Biol Chem. 2002 May 10;277(19):17248-54 - PubMed
  32. Nat Rev Mol Cell Biol. 2004 Jul;5(7):554-65 - PubMed
  33. Science. 2009 May 1;324(5927):654-7 - PubMed
  34. J Biol Regul Homeost Agents. 2012 Apr-Jun;26(2):265-76 - PubMed
  35. Cell Metab. 2010 Jan;11(1):47-57 - PubMed
  36. Nature. 2008 Dec 18;456(7224):997-1000 - PubMed
  37. Proteomics. 2002 Aug;2(8):1026-40 - PubMed
  38. PLoS One. 2009 May 21;4(5):e5650 - PubMed
  39. Nature. 2012 Mar 29;485(7396):123-7 - PubMed
  40. Liver Int. 2014 Sep;34(8):1133-52 - PubMed
  41. Cell Metab. 2011 Feb 2;13(2):125-37 - PubMed
  42. Circ Res. 2010 Feb 19;106(3):447-62 - PubMed
  43. J Biol Chem. 2010 May 28;285(22):16562-71 - PubMed
  44. Science. 2001 Jul 20;293(5529):510-4 - PubMed
  45. Mol Endocrinol. 2008 Jul;22(7):1509-20 - PubMed
  46. Expert Rev Clin Immunol. 2014 May;10(5):687-95 - PubMed
  47. Health Technol Assess. 2012;16(40):i-239 - PubMed
  48. Acta Histochem Suppl. 1976;16:109-15 - PubMed
  49. Science. 2011 Mar 11;331(6022):1315-9 - PubMed
  50. J Biol Chem. 2010 Jan 29;285(5):3030-4 - PubMed
  51. Biochem Pharmacol. 2013 May 15;85(10 ):1405-16 - PubMed
  52. JAMA. 1999 Jan 20;281(3):249-54 - PubMed
  53. Chronobiol Int. 2012 Apr;29(3):227-51 - PubMed
  54. Mol Cell Biol. 2007 Apr;27(8):3131-42 - PubMed
  55. J Pineal Res. 2006 Mar;40(2):192-3 - PubMed
  56. PLoS One. 2009;4(3):e4882 - PubMed
  57. PLoS Genet. 2009 Apr;5(4):e1000442 - PubMed
  58. Trends Endocrinol Metab. 2013 May;24(5):229-37 - PubMed
  59. Cell. 2002 May 3;109(3):307-20 - PubMed
  60. PLoS Genet. 2011 Jun;7(6):e1002143 - PubMed
  61. Adv Genet. 2011;74:175-230 - PubMed
  62. Genes Dev. 2012 Apr 1;26(7):657-67 - PubMed
  63. PLoS One. 2010 Jan 01;5(1):e8561 - PubMed
  64. Annu Rev Physiol. 2010;72:517-49 - PubMed
  65. Cell. 2008 Jul 25;134(2):317-28 - PubMed
  66. Database (Oxford). 2013 Apr 12;2013:bat024 - PubMed
  67. Cell. 2010 Sep 17;142(6):943-53 - PubMed
  68. Cell Metab. 2010 Nov 3;12(5):509-20 - PubMed
  69. Cell. 2004 Nov 24;119(5):693-705 - PubMed
  70. Nat Rev Neurosci. 2003 Aug;4(8):649-61 - PubMed
  71. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R271-7 - PubMed
  72. Trends Neurosci. 2011 Aug;34(8):401-10 - PubMed
  73. Clin Genet. 2002 Nov;62(5):418-21 - PubMed
  74. Int J Immunopathol Pharmacol. 2011 Oct-Dec;24(4):869-79 - PubMed
  75. Biochim Biophys Acta. 2009 Apr;1793(4):625-35 - PubMed
  76. Science. 2005 Aug 26;309(5739):1390-4 - PubMed
  77. J Biol Regul Homeost Agents. 2011 Apr-Jun;25(2):231-8 - PubMed
  78. Nat Rev Genet. 2008 Oct;9(10):764-75 - PubMed
  79. J Cell Biol. 2009 Oct 5;187(1):15-23 - PubMed
  80. Science. 2011 Sep 30;333(6051):1881-5 - PubMed
  81. Nucleic Acids Res. 2013 Jan;41(Database issue):D1009-13 - PubMed
  82. Nucl Recept Signal. 2010 Apr 16;8:e001 - PubMed
  83. Science. 2009 Oct 16;326(5951):437-40 - PubMed
  84. Cell. 2002 Jul 26;110(2):251-60 - PubMed
  85. Mol Neurobiol. 2005 Aug;32(1):27-41 - PubMed
  86. Chronobiol Int. 2009 Jan;26(1):126-33 - PubMed
  87. Front Endocrinol (Lausanne). 2013 Jan 25;4:1 - PubMed
  88. Science. 2013 Nov 1;342(6158):1243417 - PubMed

Publication Types