Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease?

Parkinsonism and Related Disorders

Volumn 20, Issue 6, 2014, Pages 584-589

  Markopoulou, Katerina ^a   Biernacka, Joanna M ^b   Armasu, Sebastian M ^b   Anderson, Kari J ^b   Ahlskog, J Eric ^b   Chase, Bruce A ^c   Chung, Sun Ju ^d   Cunningham, Julie M ^b   Farrer, Matthew ^e   Frigerio, Roberta ^a   Maraganore, Demetrius M ^a  

^a NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

^d University of Ulsan College of Medicine   (South Korea)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

AD 8; Bp; H Y; HR; LD; MEPD; MMSE; Outcomes; Parkinson's disease; PD; SNCA; SNP; TICS M; UPDRS; Synuclein gene

Indexed keywords

ALPHA SYNUCLEIN; SNCA PROTEIN, HUMAN;

ALZHEIMER DISEASE DEMENTIA SCREENING INTERVIEW SCORE; ARTICLE; COGNITION; DINUCLEOTIDE REPEAT; DISEASE DURATION; FEMALE; FOLLOW UP; GENE EXPRESSION; GENETIC ASSOCIATION; GENOTYPE; HOEHN AND YAHR SCALE; HUMAN; MAJOR CLINICAL STUDY; MALE; MODIFIED TELEPHONE INTERVIEW FOR COGNITIVE STATUS SCORE; MOTOR PERFORMANCE; OBSERVATIONAL STUDY; PARKINSON DISEASE; PRIORITY JOURNAL; RISK FACTOR; SCORING SYSTEM; SNCA GENE; SURVIVAL RATE; ADULT; AGED; COGNITION DISORDERS; COMPLICATION; DISABILITY; GENETICS; KAPLAN MEIER METHOD; LONGITUDINAL STUDY; MIDDLE AGED; MORTALITY; PROPORTIONAL HAZARDS MODEL; QUESTIONNAIRE; SEVERITY OF ILLNESS INDEX; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ALPHA-SYNUCLEIN; COGNITION DISORDERS; DINUCLEOTIDE REPEATS; DISABILITY EVALUATION; FEMALE; GENOTYPE; HUMANS; KAPLAN-MEIER ESTIMATE; LONGITUDINAL STUDIES; MALE; MIDDLE AGED; PARKINSON DISEASE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROPORTIONAL HAZARDS MODELS; QUESTIONNAIRES; SEVERITY OF ILLNESS INDEX;

EID: 84899998015     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2014.02.021     Document Type: Article

References (33)

1. Farrer M., Kachergus J., Forno L., Lincoln S., Wang D.S., Hulihan M., et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 2004, 55:174-179.
2. Maraganore D.M., de A M., Elbaz A., Farrer M.J., Ioannidis J.P., Kruger R., et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. J Am Med Assoc 2006, 296:661-670.
3. Chiba-Falek O., Nussbaum R.L. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 2001, 10:3101-3109.
4. Cronin K.D., Ge D., Manninger P., Linnertz C., Rossoshek A., Orrison B.M., et al. Expansion of the Parkinson disease-associated SNCA-Rep1 allele upregulates human alpha-synuclein in transgenic mouse brain. Hum Mol Genet 2009, 18:3274-3285.
5. Fuchs J., Tichopad A., Golub Y., Munz M., Schweitzer K.J., Wolf B., et al. Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain. FASEB J 2008, 22:1327-1334.
6. Linnertz C., Saucier L., Ge D., Cronin K.D., Burke J.R., Browndyke J.N., et al. Genetic regulation of alpha-synuclein mRNA expression in various human brain tissues. PLoS One 2009, 4:e7480.
7. Spillantini M.G., Schmidt M.L., Lee V.M., Trojanowski J.Q., Jakes R., Goedert M. Alpha-synuclein in Lewy bodies. Nature 1997, 388:839-840.
8. Lewis J., Melrose H., Bumcrot D., Hope A., Zehr C., Lincoln S., et al. In vivo silencing of alpha-synuclein using naked siRNA. Mol Neurodegener 2008, 3:19.
9. McCormack A.L., Mak S.K., Henderson J.M., Bumcrot D., Farrer M.J., Di Monte D.A. Alpha-synuclein suppression by targeted small interfering RNA in the primate substantia nigra. PLoS One 2010, 5:e12122.
10. Ritz B., Rhodes S.L., Bordelon Y., Bronstein J. alpha-Synuclein genetic variants predict faster motor symptom progression in idiopathic Parkinson disease. PLoS One 2012, 7:e36199.
11. Bower J.H., Maraganore D.M., McDonnell S.K., Rocca W.A. Incidence and distribution of parkinsonism in Olmsted County, Minnesota, 1976-1990. Neurology 1999, 52:1214-1220.
12. Chung S.J., Armasu S.M., Biernacka J.M., Lesnick T.G., Rider D.N., Lincoln S.J., et al. Common variants in PARK loci and related genes and Parkinson's disease. Mov Disord 2011, 26:280-288.
13. Plassman B.L., Newman T.T., Welsh K.A., Helms M., Breitner J.C.S. Application in epidemiological and longitudinal studies. Cognitive Behav Neurology 1994, 7:235-241.
14. Galvin J.E., Roe C.M., Powlishta K.K., Coats M.A., Muich S.J., Grant E., et al. The AD8: a brief informant interview to detect dementia. Neurology 2005, 65:559-564.
15. Dubois B., Burn D., Goetz C., Aarsland D., Brown R.G., Broe G.A., et al. Diagnostic procedures for Parkinson's disease dementia: recommendations from the movement disorder society task force. Mov Disord 2007, 22:2314-2324.
16. Chung S.J., Armasu S.M., Biernacka J.M., Anderson K.J., Lesnick T.G., Rider D.N., et al. Genomic determinants of motor and cognitive outcomes in Parkinson's disease. Parkinsonism Relat Disord 2012, 18:881-886.
17. Brighina L., Schneider N.K., Lesnick T.G., de A M., Cunningham J.M., Mrazek D., et al. Alpha-synuclein, alcohol use disorders, and Parkinson disease: a case-control study. Parkinsonism Relat Disord 2009, 15:430-434.
18. Lamarca R., Alonso J., Gomez G., Munoz A. Left-truncated data with age as time scale: an alternative for survival analysis in the elderly population. J Gerontol A Biol Sci Med Sci 1998, 53:M337-M343.
19. Markopoulou K., Wszolek Z.K., Pfeiffer R.F., Chase B.A. Reduced expression of the G209A alpha-synuclein allele in familial parkinsonism. Ann Neurol 1999, 46:374-381.
20. Pankratz N., Nichols W.C., Elsaesser V.E., Pauciulo M.W., Marek D.K., Halter C.A., et al. Alpha-synuclein and familial Parkinson's disease. Mov Disord 2009, 24:1125-1131.
21. Goris A., Williams-Gray C.H., Clark G.R., Foltynie T., Lewis S.J., Brown J., et al. Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann Neurol 2007, 62:145-153.
22. De Marco E.V., Tarantino P., Rocca F.E., Provenzano G., Civitelli D., De L., et al. Alpha-synuclein promoter haplotypes and dementia in Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet 2008, 147:403-407.
23. Keri S., Nagy H., Myers C.E., Benedek G., Shohamy D., Gluck M.A. Risk and protective haplotypes of the alpha-synuclein gene associated with Parkinson's disease differentially affect cognitive sequence learning. Genes Brain Behav 2008, 7:31-36.
24. Farrer M., Stone J., Mata I.F., Lincoln S., Kachergus J., Hulihan M., et al. LRRK2 mutations in Parkinson disease. Neurology 2005, 65:738-740.
25. Maraganore D.M., Wilkes K., Lesnick T.G., Strain K.J., de A M., Rocca W.A., et al. A limited role for DJ1 in Parkinson disease susceptibility. Neurology 2004, 63:550-553.
26. Eschbach J, Danzer KM. α-Synuclein in Parkinson's disease: pathogenic function and translation into animal models. Neurodegener Dis, published online 24 September 2013. http://dx.doi.org/10.1159/000354615.
27. Sutherland G.T., Matigian N.A., Chalk A.M., Anderson M.J., Silburn P.A., Mackay-Sim A., et al. A cross-study transcriptional analysis of Parkinson's disease. PLoS One 2009, 4:e4955.
28. Simunovic F., Yi M., Wang Y., Macey L., Brown L.T., Krichevsky A.M., et al. Gene expression profiling of substantia nigra dopamine neurons: further insights into Parkinson's disease pathology. Brain 2009, 132:1795-1809.
29. Dachsel J.C., Lincoln S.J., Gonzalez J., Ross O.A., Dickson D.W., Farrer M.J. The ups and downs of alpha-synuclein mRNA expression. Mov Disord 2007, 22:293-295.
30. Grant J.L., Ghosn E.E., Axtell R.C., Herges K., Kuipers H.F., Woodling N.S., et al. Reversal of paralysis and reduced inflammation from peripheral administration of beta-amyloid in TH1 and TH17 versions of experimental autoimmune encephalomyelitis. Sci Transl Med 2012, 4:145ra105.
31. Kurnellas M.P., Adams C.M., Sobel R.A., Steinman L., Rothbard J.B. Amyloid fibrils composed of hexameric peptides attenuate neuroinflammation. Sci Transl Med 2013, 5:179ra42.
32. Liu C.C., Kanekiyo T., Xu H., Bu G. Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nat Rev Neurol 2013, 9:106-118.
33. Ossenkoppele R., van der Flier W.M., Zwan M.D., Adriaanse S.F., Boellaard R., Windhorst A.D., et al. Differential effect of APOE genotype on amyloid load and glucose metabolism in AD dementia. Neurology 2013, 80:359-365.