Gain-of-function of P2X7 receptor gene variants in multiple sclerosis

Cell Calcium

Volumn 50, Issue 5, 2011, Pages 468-472

  Oyanguren Desez, Olatz ^a,b   Rodríguez Antigüedad, Alfredo ^c   Villoslada, Pablo ^d   Domercq, María ^a   Alberdi, Elena ^a,b   Matute, Carlos ^a,b  

^a UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^b Neurotek   (Spain)

^c HOSPITAL DE BASURTO   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

Calcium permeability; Dye uptake; Electrophysiology; Gene polymorphisms; Multiple sclerosis; P2X7 receptors

Indexed keywords

ALANINE; CALCIUM ION; ETHIDIUM; HISTIDINE; PURINERGIC P2X7 RECEPTOR; THYMINE; TYROSINE; VALINE;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CALCIUM TRANSPORT; CASE CONTROL STUDY; CELL MEMBRANE PERMEABILITY; CONTROLLED STUDY; GAIN OF FUNCTION MUTATION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MEMBRANE ELECTROPHYSIOLOGY; MULTIPLE SCLEROSIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 80054005767     PISSN: 01434160     EISSN: 15321991     Source Type: Journal    
DOI: 10.1016/j.ceca.2011.08.002     Document Type: Article

References (24)

1. Prineas J.W., McDonald W.I., Franklin R.J.M. Demyelinating diseases. Greenfield's Neuropathology 2002, 2:471-550. Arnold, London.
2. Zamvil S.S., Steinman L. Diverse targets for intervention during inflammatory and neurodegenerative phases of multiple sclerosis. Neuron 2003, 38:685-688.
3. Matute C., Alberdi E., Domercq M., Pérez-Cerdá F., Pérez-Samartín A., Sánchez-Gómez M.V. The link between excitotoxic oligodendroglial death and demyelinating diseases. Trends Neurosci. 2001, 24:224-230.
4. Srinivasan R., Sailasuta N., Hurd R., Nelson S., Pelletier D. Evidence of elevated glutamate in multiple sclerosis using magnetic resonance spectroscopy at 3T. Brain 2005, 128:1016-1025.
5. Vallejo-Illarramendi A., Domercq M., Pérez-Cerdá F., Ravid R., Matute C. Increased expression and function of glutamate transporters in multiple sclerosis. Neurobiol. Dis. 2006, 21:154-164.
6. Matute C., Torre I., Pérez-Cerdá F., et al. P2X7 receptor blockade prevents ATP excitotoxicity in oligodendrocytes and ameliorates experimental autoimmune encephalomyelitis. J. Neurosci. 2007, 27:9525-9533.
7. Narcisse L., Scemes E., Zhao Y., Lee S.C., Brosnan C.F. The cytokine IL-1beta transiently enhances P2X7 receptor expression and function in human astrocytes. Glia 2005, 49:245-258.
8. Yiangou Y., Facer P., Durrenberger P., et al. COX-2, CB2 and P2X7-immunoreactivities are increased in activated microglial cells/macrophages of multiple sclerosis and amyotrophic lateral sclerosis spinal cord. BMC Neurol. 2006, 6:1-14.
9. Polman C.H., Reingold S.C., Edan G., et al. Diagnostic criteria for multiple sclerosis: 2005 revisions to the McDonald Criteria. Ann. Neurol. 2005, 58:840-846.
10. Matute C., Domercq M., Sánchez-Gómez M.V. Glutamate-mediated glial injury: mechanisms and clinical importance. Glia 2006, 53:212-224.
11. Morcillo-Suarez C., Alegre J., Sangros R., et al. SNP Analysis to Results (SNPator): a web-based environment oriented to statistical genomics analyses upon SNP data. Bioinformatics 2008, 24:2790-2791.
12. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21:263-265.
13. Gabriel S.B., Schaffner S.F., Nguyen H., et al. The structure of haplotype blocks in the human genome. Science 2002, 296:2225-2229.
14. Alberdi E., Sánchez-Gómez M.V., Torre I., et al. Activation of kainate receptors sensitizes oligodendrocytes to complement attack. J. Neurosci. 2006, 26:3220-3228.
15. Rassendren F., Buell G.N., Virginio C., Collo G., North R.A., Surprenant A. The permeabilizing ATP receptor, P2X7. Cloning and expression of a human Cdna. J. Biol. Chem. 1997, 272:5482-5486.
16. Liu X., Ma W., Surprenant A., Jiang L.H. Identification of the amino acid residues in the extracellular domain of rat P2X(7) receptor involved in functional inhibition by acidic pH. Br. J. Pharmacol. 2009, 156:135-142.
17. Stokes L., Fuller S.J., Sluyter R., Skarratt K.K., Gu B.J., Wiley J.S. Two haplotypes of the P2X7 receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1β secretion. FASEB J. 2010, 24:2916-2927.
18. Roger S., Mei Z., Baldwin J.M., et al. Single nucleotide polymorphisms that were identified in affective mood disorders affect ATP-activated P2X7 receptor function. J. Psychiatr. Res. 2010, 44:347-355.
19. Cabrini G., Falzoni S., Forchap S.L., et al. A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes. J. Immunol. 2005, 175:82-89.
20. Bradley H.J., Baldwin J.M., Goli R., et al. Residues 155 and 348 contribute to the determination o f P2X7 receptor function via distinct mechanisms revealed by single-nucleotide polymorphisms. J. Biol. Chem. 2011, 286:8176-8187.
21. Fields R.D., Burnstock G. Purinergic signalling in neuron-glia interactions. Nat. Rev. Neurosci. 2006, 7:423-436.
22. Wang X., Arcuino G., Takano T., et al. P2X7 receptor inhibition improves recovery after spinal cord injury. Nat. Med. 2004, 10:821-827.
23. Butt A.M. Neurotransmitter-mediated calcium signalling in oligodendrocyte physiology and pathology. Glia 2006, 54:666-675.
24. Haghighi S., Andersen O., Nilsson S., Rydberg L., Wahlström J. A linkage study in two families with multiple sclerosis and healthy members with oligoclonal CSF immunopathy. Mult. Scler. 2006, 12:723-730.