CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Lopez Lopez, Alan ^a,d   Gamez, Josep ^b   Syriani, Emilio ^b,c   Morales, Miguel ^c   Salvado, Maria ^b   Rodríguez, Manuel J ^a,d   Mahy, Nicole ^a,d   Vidal Taboada, Jose M ^a,d  

^a UNIVERSITY OF BARCELONA   (Spain)

^b HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^c CENTER FOR BIOMEDICAL RESEARCH OF LA RIOJA CIBIR   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; CX3CR1 GENE; DISEASE COURSE; DISEASE PREDISPOSITION; DOMINANT INHERITANCE; FEMALE; GENE; GENE FREQUENCY; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; ONSET AGE; SURVIVAL TIME; AGED; ALLELE; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED; MORTALITY; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; SURVIVAL RATE; VERY ELDERLY;

CHEMOKINE RECEPTOR; CX3CR1 PROTEIN, HUMAN;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; AMYOTROPHIC LATERAL SCLEROSIS; DISEASE PROGRESSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CHEMOKINE; SPAIN; SURVIVAL RATE;

EID: 84900538318     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0096528     Document Type: Article

References (50)

1. Wijesekera LC, Leigh PN (2009) Amyotrophic lateral sclerosis. Orphanet J Rare Dis 4: 3. doi:10.1186/1750-1172-4-3.
2. Rowland LP, Shneider NA (2001) Amyotrophic lateral sclerosis. N Engl J Med 344: 1688-1700. doi:10.1056/NEJM200105313442207. (Pubitemid 32479968)
3. Orrell RW (2007) Understanding the causes of amyotrophic lateral sclerosis. N Engl J Med 357: 822-823. doi:10.1056/NEJMe078146.
4. Pratt AJ, Getzoff ED, Perry JJP (2012) Amyotrophic lateral sclerosis: update and new developments. Degener Neurol Neuromuscul Dis 2012: 1-14. doi:10.2147/DNND.S19803.
5. Ferraiuolo L, Kirby J, Grierson AJ, Sendtner M, Shaw PJ (2011) Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis. Nat Rev Neurol 7: 616-630. doi:10.1038/nrneurol.2011.152.
6. Evans MC, Couch Y, Sibson N, Turner MR (2013) Inflammation and neurovascular changes in amyotrophic lateral sclerosis. Mol Cell Neurosci 53: 34-41. doi:10.1016/j.mcn.2012.10.008.
7. Nardo G, Pozzi S, Pignataro M, Lauranzano E, Spano G, et al. (2011) Amyotrophic lateral sclerosis multiprotein biomarkers in peripheral blood mononuclear cells. PLoS ONE 6: e25545. doi:10.1371/journal.pone.0025545.
8. Steinacker P, Fang L, Kuhle J, Petzold A, Tumani H, et al. (2011) Soluble beta-amyloid precursor protein is related to disease progression in amyotrophic lateral sclerosis. PLoS ONE 6: e23600. doi:10.1371/journal.pone.0023600.
9. Renton AE, Chiò A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17: 17-23. doi:10.1038/nn.3584.
10. ALSGEN Consortium, Ahmeti KB, Ajroud-Driss S, Al-Chalabi A, Andersen PM, et al. (2013) Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 34: 357.e7-19. doi:10.1016/j.neurobiolaging. 2012.07.017.
11. Ince PG, Highley JR, Kirby J, Wharton SB, Takahashi H, et al. (2011) Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology. Acta Neuropathol 122: 657-671. doi:10.1007/s00401-011-0913-0.
12. Beers DR, Henkel JS, Zhao W, Wang J, Huang A, et al. (2011) Endogenous regulatory T lymphocytes ameliorate amyotrophic lateral sclerosis in mice and correlate with disease progression in patients with amyotrophic lateral sclerosis. Brain 134: 1293-1314. doi:10.1093/brain/awr074.
13. McCombe PA, Henderson RD (2011) The Role of immune and inflammatory mechanisms in ALS. Curr Mol Med 11: 246-254.
14. Appel SH, Beers DR, Henkel JS (2010) T cell-microglial dialogue in Parkinson's disease and amyotrophic lateral sclerosis: are we listening? Trends in Immunology 31: 7-17. doi:10.1016/j.it.2009.09.003.
15. Boillée S, Yamanaka K, Lobsiger CS, Copeland NG, Jenkins NA, et al. (2006) Onset and Progression in Inherited ALS Determined by Motor Neurons and Microglia. Science 312: 1389-1392. doi:10.1126/science.1123511. (Pubitemid 43839552)
16. Corcia P, Tauber C, Vercoullie J, Arlicot N, Prunier C, et al. (2012) Molecular imaging of microglial activation in amyotrophic lateral sclerosis. PLoS ONE 7: e52941. doi:10.1371/journal.pone.0052941.
17. Henkel JS, Beers DR, Zhao W, Appel SH (2009) Microglia in ALS: the good, the bad, and the resting. J Neuroimmune Pharmacol 4: 389-398. doi:10.1007/s11481-009-9171-5.
18. Brettschneider J, Libon DJ, Toledo JB, Xie SX, McCluskey L, et al. (2012) Microglial activation and TDP-43 pathology correlate with executive dysfunction in amyotrophic lateral sclerosis. Acta Neuropathol 123: 395-407. doi:10.1007/s00401-011-0932-x.
19. Brettschneider J, Toledo JB, Van Deerlin VM, Elman L, McCluskey L, et al. (2012) Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis. PLoS ONE 7: e39216. doi:10.1371/journal.pone.0039216.
20. Hickman SE, Kingery ND, Ohsumi TK, Borowsky ML, Wang L-C, et al. (2013) The microglial sensome revealed by direct RNA sequencing. Nat Neurosci 16: 1896-1905. doi:10.1038/nn.3554.
21. Ransohoff RM, Cardona AE (2010) The myeloid cells of the central nervous system parenchyma. Nature 468: 253-262. doi:10.1038/nature09615.
22. Cardona AE, Pioro EP, Sasse ME, Kostenko V, Cardona SM, et al. (2006) Control of microglial neurotoxicity by the fractalkine receptor. Nature Neuroscience 9: 917-924. doi:10.1038/nn1715. (Pubitemid 43980506)
23. Wolf Y, Yona S, Kim K-W, Jung S (2013) Microglia, seen from the CX3CR1 angle. Front Cell Neurosci 7: 26. doi:10.3389/fncel.2013.00026.
24. Imai T, Hieshima K, Haskell C, Baba M, Nagira M, et al. (1997) Identification and Molecular Characterization of Fractalkine Receptor CX3CR1, which Mediates Both Leukocyte Migration and Adhesion. Cell 91: 521-530. doi:10.1016/S0092-8674(00)80438-9. (Pubitemid 27508241)
25. Cockwell P, Calderwood JW, Brooks CJ, Chakravorty SJ, Savage COS (2002) Chemoattraction of T cells expressing CCR5, CXCR3 and CX3CR1 by proximal tubular epithelial cell chemokines. Nephrol Dial Transplant 17: 734-744. (Pubitemid 34521121)
26. Murphy PM (1994) The molecular biology of leukocyte chemoattractant receptors. Annu Rev Immunol 12: 593-633. doi:10.1146/annurev.iy.12.040194. 003113.
27. Daoudi M, Lavergne E, Garin A, Tarantino N, Debré P, et al. (2004) Enhanced Adhesive Capacities of the Naturally Occurring Ile249-Met280 Variant of the Chemokine Receptor CX3CR1. J Biol Chem 279: 19649-19657. doi:10.1074/jbc.M313457200. (Pubitemid 38623402)
28. McDermott DH, Fong AM, Yang Q, Sechler JM, Cupples LA, et al. (2003) Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans. J Clin Invest 111: 1241-1250. doi:10.1172/JCI16790. (Pubitemid 36519941)
29. Arli B, Irkec C, Menevse S, Yilmaz A, Alp E (2013) Fractalkine gene receptor polymorphism in patients with multiple sclerosis. Int J Neurosci 123: 31-37. doi:10.3109/00207454.2012.723079.
30. Brand S, Hofbauer K, Dambacher J, Schnitzler F, Staudinger T, et al. (2006) Increased Expression of the Chemokine Fractalkine in Crohn's Disease and Association of the Fractalkine Receptor T280M Polymorphism with a Fibrostenosing Disease Phenotype. Am J Gastroenterol 101: 99-106. (Pubitemid 43381715)
31. Faure S, Meyer L, Costagliola D, Vaneensberghe C, Genin E, et al. (2000) Rapid Progression to AIDS in HIV+ Individuals with a Structural Variant of the Chemokine Receptor CX3CR1. Science 287: 2274-2277. doi:10.1126/ science.287.5461.2274.
32. Tuo J, Smith BC, Bojanowski CM, Meleth AD, Gery I, et al. (2004) The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J 18: 1297-1299. doi:10.1096/fj.04- 1862fje. (Pubitemid 39561582)
33. Moatti D, Faure S, Fumeron F, Amara MEW, Seknadji P, et al. (2001) Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. Blood 97: 1925-1928. doi:10.1182/blood.V97.7.1925. (Pubitemid 32239068)
34. Forbes RB, Colville S, Swingler RJ (2001) Are the El Escorial and Revised El Escorial criteria for ALS reproducible? A study of inter-observer agreement. Amyotroph Lateral Scler Other Motor Neuron Disord 2: 135-138. (Pubitemid 34013606)
35. González JR, Armengol L, Solé X, Guinó E, Mercader JM, et al. (2007) SNPassoc: an R package to perform whole genome association studies. Bioinformatics 23: 644-645. doi:10.1093/bioinformatics/btm025. (Pubitemid 46522604)
36. Ballana E, Senserrich J, Pauls E, Faner R, Mercader JM, et al. (2010) ZNRD1 (zinc ribbon domain-containing 1) is a host cellular factor that influences HIV-1 replication and disease progression. Clin Infect Dis 50: 1022-1032. doi:10.1086/651114.
37. Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, et al. (2009) Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 106: 9004-9009. doi:10.1073/pnas.0812937106.
38. Van Hoecke A, Schoonaert L, Lemmens R, Timmers M, Staats KA, et al. (2012) EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nat Med 18: 1418-1422. doi:10.1038/nm.2901.
39. Diekstra FP, van Vught PWJ, van Rheenen W, Koppers M, Pasterkamp RJ, et al. (2012) UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 33: 630.e3-8. doi:10.1016/j.neurobiolaging.2011.10.029.
40. Blasco H, Vourc'h P, Nadjar Y, Ribourtout B, Gordon PH, et al. (2011) Association between divalent metal transport 1 encoding gene (SLC11A2) and disease duration in amyotrophic lateral sclerosis. J Neurol Sci 303: 124-127. doi:10.1016/j.jns.2010.12.018.
41. Corcia P, Camu W, Halimi J-M, Vourc'h P, Antar C, et al. (2006) SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology 67: 1147-1150. doi:10.1212/01.wnl.0000233830.85206.1e. (Pubitemid 44563819)
42. Veldink JH, van den Berg LH, Cobben JM, Stulp RP, De Jong JM, et al. (2001) Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS. Neurology 56: 749-752.
43. Gamez J, Barceló MJ, Muñoz X, Carmona F, Cuscó I, et al. (2002) Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology 59: 1456-1460. (Pubitemid 35286010)
44. Andersen PM, Nilsson P, Keränen ML, Forsgren L, Hägglund J, et al. (1997)Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 120 (Pt 10): 1723-1737. (Pubitemid 27443049)
45. Cudkowicz ME, McKenna-Yasek D, Sapp PE, Chin W, Geller B, et al. (1997) Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 41: 210-221. doi:10.1002/ana.410410212. (Pubitemid 27082102)
46. Yang Y, Hentati A, Deng HX, Dabbagh O, Sasaki T, et al. (2001) The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 29: 160-165. doi:10.1038/ng1001-160. (Pubitemid 32952652)
47. Gamez J, Corbera-Bellalta M, Nogales G, Raguer N, García- Arumí E, et al. (2006) Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1? J Neurol Sci 247: 21-28. doi:10.1016/j.jns.2006.03.006. (Pubitemid 44107374)
48. Apostolakis S, Amanatidou V, Papadakis EG, Spandidos DA (2009) Genetic diversity of CX3CR1 gene and coronary artery disease: New insights through a meta-analysis. Atherosclerosis 207: 8-15. doi:10.1016/j.atherosclerosis.2009.03. 044.
49. Niessner A, Marculescu R, Haschemi A, Endler G, Zorn G, et al. (2005) Opposite effects of CX3CR1 receptor polymorphisms V249I and T280M on the development of acute coronary syndrome. A possible implication of fractalkine in inflammatory activation. Thromb Haemost 93: 949-954. doi:10.1267/THRO05050949. (Pubitemid 40703868)
50. D'Haese JG, Friess H, Ceyhan GO (2012) Therapeutic potential of the chemokine-receptor duo fractalkine/CX3CR1: an update. Expert Opin Ther Targets 16: 613-618. doi:10.1517/14728222.2012.682574.