Cerebellar α-synuclein levels are decreased in Parkinson's disease and do not correlate with SNCA polymorphisms associated with disease in a Swedish material

FASEB Journal

Volumn 22, Issue 10, 2008, Pages 3509-3514

  Westerlund, Marie ^a   Belin, Andrea Carmine ^a   Anvret, Anna ^a   Håkansson, Anna ^b   Nissbrandt, Hans ^b   Lind, Charlotta ^c   Sydow, Olof ^c   Olson, Lars ^a   Galter, Dagmar ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

NACP; PARK1; PD1; Western blot

Indexed keywords

ALPHA SYNUCLEIN; ALPHA TUBULIN; SNCA PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; BRAIN LEVEL; CASE CONTROL STUDY; CEREBELLUM; CONTROLLED STUDY; GENE EXPRESSION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HUMAN; HUMAN TISSUE; INTRON; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; FEMALE; GENETIC PREDISPOSITION; GENETICS; MALE; METABOLISM; MIDDLE AGED; SWEDEN;

AGED; ALPHA-SYNUCLEIN; CEREBELLUM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; SWEDEN;

EID: 54049111402     PISSN: 08926638     EISSN: None     Source Type: Journal    
DOI: 10.1096/fj.08-110148     Document Type: Article

References (28)

1. Mizuta, I., Satake, W., Nakabayashi, Y., Ito, C., Suzuki, S., Momose, Y., Nagai, Y., Oka, A., Inoko, H., Fukae, J., Saito, Y., Sawabe, M., Murayama, S., Yamamoto, M., Hattori, N., Murata, M., and Toda, T. (2006) Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum. Mol. Genet. 15, 1151-1158
2. Mueller, J. C., Fuchs, J., Hofer, A., Zimprich, A., Lichtner, P., Illig, T., Berg, D., Wullner, U., Meitinger, T., and Gasser, T. (2005) Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann. Neurol. 57, 535-541
3. Spillantini, M. G., Schmidt, M. L., Lee, V. M., Trojanowski, J. Q., Jakes, R., and Goedert, M. (1997) Alpha-synuclein in Lewy bodies. Nature 388, 839-840
4. Solano, S. M., Miller, D. W., Augood, S. J., Young, A. B., and Penney, J. B., Jr. (2000) Expression of alpha-synuclein, parkin, and ubiquitin carboxy-terminal hydrolase L1 mRNA in human brain: genes associated with familial Parkinson's disease. Ann. Neurol. 47, 201-210
5. Kruger, R., Kuhn, W., Muller, T., Woitalla, D., Graeber, M., Kosel, S., Przuntek, H., Epplen, J. T., Schols, L., and Riess, O. (1998) Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. Nat. Genet. 18, 106-108
6. Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., Stenroos, E. S., Chandrasekharappa, S., Athanassiadou, A., Papapetropoulos, T., Johnson, W. G., Lazzarini, A. M., Duvoisin, R. C., Di, I. G., Golbe, L. I., and Nussbaum, R. L. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 276, 2045-2047
7. Zarranz, J. J., Alegre, J., Gomez-Esteban, J. C., Lezcano, E., Ros, R., Ampuero, I., Vidal, L., Hoenicka, J., Rodriguez, O., Atares, B., Llorens, V., Gomez, T. E., del Ser, T., Munoz, D. G., and de Yebenes, J. G. (2004) The new mutation, E46K, of alphasynuclein causes Parkinson and Lewy body dementia. Ann. Neurol. 55, 164-173
8. Maraganore, D. M., de Andrade, M., Elbaz, A., Farrer, M. J., Ioannidis, J. P., Kruger, R., Rocca, W. A., Schneider, N. K., Lesnick, T. G., Lincoln, S. J., Hulihan, M. M., Aasly, J. O., Ashizawa, T., Chartier-Harlin, M. C., Checkoway, H., Ferrarese, C., Hadjigeorgiou, G., Hattori, N., Kawakami, H., Lambert, J. C., Lynch, T., Mellick, G. D., Papapetropoulos, S., Parsian, A., Quattrone, A., Riess, O., Tan, E. K., and Van Broeckhoven, C. (2006) Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 296, 661-670
9. Chartier-Harlin, M. C., Kachergus, J., Roumier, C., Mouroux, V., Douay, X., Lincoln, S., Levecque, C., Larvor, L., Andrieux, J., Hulihan, M., Waucquier, N., Defebvre, L., Amouyel, P., Farrer, M., and Destee, A. (2004) Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169
10. Ibanez, P., Bonnet, A. M., Debarges, B., Lohmann, E., Tison, F., Pollak, P., Agid, Y., Durr, A., and Brice, A. (2004) Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 364, 1169-1171
11. Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., Lincoln, S., Crawley, A., Hanson, M., Maraganore, D., Adler, C., Cookson, M. R., Muenter, M., Baptista, M., Miller, D., Blancato, J., Hardy, J., and Gwinn-Hardy, K. (2003) alpha-Synuclein locus triplication causes Parkinson's disease. Science 302, 841
12. Farrer, M., Kachergus, J., Forno, L., Lincoln, S., Wang, D. S., Hulihan, M., Maraganore, D., Gwinn-Hardy, K., Wszolek, Z., Dickson, D., and Langston, J. W. (2004) Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann. Neurol. 55, 174-179
13. Chiba-Falek, O., Lopez, G. J., and Nussbaum, R. L. (2006) Levels of alpha-synuclein mRNA in sporadic Parkinson disease patients. Mov. Disord. 21, 1703-1708
14. Rockenstein, E., Hansen, L. A., Mallory, M., Trojanowski, J. Q., Galasko, D., and Masliah, E. (2001) Altered expression of the synuclein family mRNA in Lewy body and Alzheimer's disease. Brain Res. 914, 48-56
15. Dachsel, J. C., Lincoln, S. J., Gonzalez, J., Ross, O. A., Dickson, D. W., and Farrer, M. J. (2007) The ups and downs of alpha-synuclein mRNA expression. Mov. Disord. 22, 293-295
16. Fuchs, J., Tichopad, A., Golub, Y., Munz, M., Schweitzer, K. J., Wolf, B., Berg, D., Mueller, J. C., and Gasser, T. (2008) Genetic variability in the SNCA gene influences α-synuclein levels in the blood and brain. FASEB J. 22, 1327-1334
17. Kingsbury, A. E., Daniel, S. E., Sangha, H., Eisen, S., Lees, A. J., and Foster, O. J. (2004) Alteration in alpha-synuclein mRNA expression in Parkinson's disease. Mov. Disord. 19, 162-170
18. Neystat, M., Lynch, T., Przedborski, S., Kholodilov, N., Rzhetskaya, M., and Burke, R. E. (1999) Alpha-synuclein expression in substantia nigra and cortex in Parkinson's disease. Mov. Disord. 14, 417-422
19. Daniel, S. E., Lees, A. J. (1993) Parkinson's Disease Society Brain Bank, London: overview and research. J. Neural Transm. Suppl. 39, 165-172
20. Ronaghi, M., Uhlen, M., and Nyren, P. (1998) A sequencing method based on real-time pyrophosphate. Science 281. 363, 365
21. Dudbridge, F. (2003) Pedigree disequilibrium tests for multilocus haplotypes. Genet. Epidemiol. 25, 115-121
22. Cookson, M. R., van der, B. M. (2008) Cell systems and the toxic mechanism(s) of alpha-synuclein. Exp. Neurol. 209, 5-11
23. Abeliovich, A., Schmitz, Y., Farinas, I., Choi-Lundberg, D., Ho, W. H., Castillo, P. E., Shinsky, N., Verdugo, J. M., Armanini, M., Ryan, A., Hynes, M., Phillips, H., Sulzer, D., and Rosenthal, A. (2000) Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25, 239-252
24. Li, Q. X., Mok, S. S., Laughton, K. M., McLean, C. A., Cappai, R., Masters, C. L., Culvenor, J. G., and Horne, M. K. (2007) Plasma alpha-synuclein is decreased in subjects with Parkinson's disease. Exp. Neurol. 204, 583-588
25. Tokuda, T., Salem, S. A., Allsop, D., Mizuno, T., Nakagawa, M., Qureshi, M. M., Locascio, J. J., Schlossmacher, M. G., and El-Agnaf, O. M. (2006) Decreased alpha-synuclein in cerebrospinal fluid of aged individuals and subjects with Parkinson's disease. Biochem. Biophys. Res. Commun. 349, 162-166
26. Papapetropoulos, S., Adi, N., Mash, D. C., Shehadeh, L., Bishopric, N., and Shehadeh, L. (2007) Expression of alphasynuclein mRNA in Parkinson's disease. Mov. Disord. 22, 1057-1059
27. Fahn, S. (2005) Does levodopa slow or hasten the rate of progression of Parkinson's disease? J. Neurol. 252(Suppl. 4), IV37-IV42
28. Wang, G., van der Walt, J. M., Mayhew, G., Li, Y. J., Zuchner, S., Scott, W. K., Martin, E. R., and Vance, J. M. (2008) Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein. Am. J. Hum. Genet. 82, 283-289