Display options
Share it on

Tremor Other Hyperkinet Mov (N Y). 2015 Aug 25;5:328. doi: 10.7916/D8VH5N2M. eCollection 2015.

Neuroacanthocytosis: Observations, Theories and Perspectives on the Origin and Significance of Acanthocytes.

Tremor and other hyperkinetic movements (New York, N.Y.)

Merel J W Adjobo-Hermans, Judith C A Cluitmans, Giel J C G M Bosman

Affiliations

  1. Department of Biochemistry, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.

PMID: 26317043 PMCID: PMC4548760 DOI: 10.7916/D8VH5N2M

Abstract

The presence of acanthocytes in the blood is characteristic of patients suffering from neuroacanthocytosis (NA). Recent studies have described abnormal phosphorylation of the proteins involved in connecting the membrane and cytoskeleton in patient-derived erythrocytes. The involvement of lipids in the underlying signaling pathways and recent reports on in vitro disease-associated lipid alterations support renewed research into lipid composition, signal transduction, and metabolism in patient erythrocytes. In addition to morphology, changes in membrane organization affect erythrocyte function and survival. Patient erythrocytes may have a decreased ability to deform, and this may contribute to accelerated erythrocyte removal and a decreased oxygen supply, especially in vulnerable brain regions. The presently available data indicate that acanthocytes are likely to originate in the bone marrow, making erythropoiesis an obvious new focus in NA research. Moreover, new, detailed morphological observations indicate that acanthocytes may be the tip of the iceberg with regard to misshapen erythrocytes in the circulation of patients with NA. A systematic assessment of patient erythrocyte morphology, deformability, oxygen delivery, and metabolism will be instrumental in determining the putative contribution of erythrocyte function to NA clinical symptoms.

Keywords: Acanthocytosis; erythrocytes; membrane; neurodegeneration; signaling

References

  1. Trends Pharmacol Sci. 2005 Dec;26(12):654-60 - PubMed
  2. Biochem Biophys Res Commun. 2013 Nov 8;441(1):96-101 - PubMed
  3. Front Neurol. 2013 Dec 20;4:207 - PubMed
  4. PLoS One. 2015 May 01;10(5):e0125580 - PubMed
  5. Nat Rev Mol Cell Biol. 2007 Nov;8(11):931-7 - PubMed
  6. J Alzheimers Dis. 2014;41(3):715-7 - PubMed
  7. Proc Natl Acad Sci U S A. 1988 Jan;85(2):492-6 - PubMed
  8. J Cell Mol Med. 2009 Nov-Dec;13(11-12):4364-76 - PubMed
  9. Nature. 2001 Mar 1;410(6824):89-93 - PubMed
  10. Science. 2012 Aug 10;337(6095):727-30 - PubMed
  11. Curr Neurol Neurosci Rep. 2015;15(2):514 - PubMed
  12. FASEB J. 2012 Apr;26(4):1526-34 - PubMed
  13. PLoS One. 2015 Apr 27;10(4):e0124836 - PubMed
  14. Stroke. 2011 May;42(5):1255-60 - PubMed
  15. J Neurol. 2005 Jan;252(1):84-90 - PubMed
  16. J Lipid Res. 2015 May;56(5):945-62 - PubMed
  17. Curr Opin Cell Biol. 2000 Apr;12 (2):229-34 - PubMed
  18. Prog Lipid Res. 2014 Jan;53:1-17 - PubMed
  19. Nature. 2014 Jan 16;505(7483):327-34 - PubMed
  20. Neurology. 2014 Mar 11;82(10):835-41 - PubMed
  21. J Biol Chem. 2000 Jan 14;275(2):992-8 - PubMed
  22. J Mol Med (Berl). 2002 Aug;80(8):475-91 - PubMed
  23. Methods Enzymol. 2009;453:217-49 - PubMed
  24. Front Cell Neurosci. 2014 Sep 26;8:295 - PubMed
  25. Neurobiol Dis. 2012 Jun;46(3):607-24 - PubMed
  26. Proc Natl Acad Sci U S A. 2010 Jan 12;107(2):832-7 - PubMed
  27. Haematologica. 2014 Mar;99(3):570-8 - PubMed
  28. Prog Neurobiol. 2014 Jan;112:24-49 - PubMed
  29. Brain Res Bull. 1994;33(5):523-8 - PubMed
  30. FEBS J. 2012 Jan;279(1):2-11 - PubMed
  31. Br J Haematol. 2008 May;141(3):367-75 - PubMed
  32. Biochim Biophys Acta. 2014 Feb;1838(2):620-34 - PubMed
  33. Blood. 2011 Jun 2;117(22):5998-6006 - PubMed
  34. Toxicol In Vitro. 2014 Oct;28(7):1274-9 - PubMed
  35. J Cell Sci. 2012 Jun 15;125(Pt 12):3004-11 - PubMed
  36. IUBMB Life. 2003 Jun;55(6):293-8 - PubMed
  37. Cell Stem Cell. 2011 Dec 2;9(6):493-5 - PubMed
  38. Blood Rev. 2013 Jul;27(4):167-78 - PubMed
  39. Ann Neurol. 1991 Jun;29(6):664-9 - PubMed
  40. J Lab Clin Med. 1989 Apr;113(4):469-81 - PubMed
  41. PLoS One. 2013 Aug 02;8(8):e70804 - PubMed
  42. Proc Natl Acad Sci U S A. 1999 Sep 14;96(19):10717-22 - PubMed
  43. J Neurosci. 2004 Sep 1;24(35):7727-39 - PubMed
  44. Blood. 2011 Nov 17;118(20):5652-63 - PubMed
  45. N Engl J Med. 2003 Jan 2;348(1):33-40 - PubMed
  46. Front Cell Neurosci. 2015 Mar 06;9:56 - PubMed
  47. Can J Neurol Sci. 2014 May;41(3):402-4 - PubMed

Publication Types