RNA biomarkers of Parkinson's disease: Developing tools for novel therapies

Biomarkers in Medicine

Volumn 2, Issue 1, 2008, Pages 41-53

  Hennecke, Gerrit ^a   Scherzer, Clemens R ^b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b NONE

Author keywords

Biomarker; Diagnostics; Gene expression; Guidelines; Heat shock protein 70 interacting gene (ST13); Microarray; Parkinson's disease; Risk; Validation

Indexed keywords

ALPHA SYNUCLEIN; ANTIPARKINSON AGENT; BIOLOGICAL MARKER; CHAPERONE; HEAT SHOCK PROTEIN 70; LEVODOPA; PLACEBO; PROTEIN ST13; RNA; UBIDECARENONE; UNCLASSIFIED DRUG;

AGING; BALANCE IMPAIRMENT; BRADYKINESIA; CIGARETTE SMOKING; CLINICAL FEATURE; CLINICAL TRIAL; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DNA METHYLATION; DOPAMINE METABOLISM; DRUG EFFICACY; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; LEUKOCYTE; LEWY BODY; LYMPHOCYTE; MICROARRAY ANALYSIS; MUSCLE STIFFNESS; PARKINSON DISEASE; REVIEW; RISK FACTOR; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTANTIA NIGRA; THROMBOCYTE; TREMOR;

EID: 41249098565     PISSN: 17520363     EISSN: None     Source Type: Journal    
DOI: 10.2217/17520363.2.1.41     Document Type: Review

References (63)

1. Dorsey ER, Constantinescu R, Thompson JP et al.: Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030. Neurology 68, 384-386 (2007).
2. Scherzer CR, Feany MB: Yeast genetics targets lipids in Parkinson's disease. Trends Genet. 20, 273-277 (2004).
3. Fearnley JM, Lees AJ: Ageing and Parkinson's disease: substantia nigra regional selectivity. Brain 114(Pt 5), 2283-2301 (1991).
4. Schulz JB, Beal MF: Mitochondrial dysfunction in movement disorders. Curr. Opin. Neurol. 7, 333-339 (1994).
5. Barbanti P, Fabbrini G, Ricci A et al.: Increased expression of dopamine receptors on lymphocytes in Parkinson's disease. Mov. Disord. 14, 764-771 (1999).
6. Yoshino H, Nakagawa-Hattori Y, Kondo T, Mizuno Y: Mitochondrial complex I and II activities of lymphocytes and platelets in Parkinson's disease. J. Neural Transm. Park. Dis. Dement. Sect. 4, 27-34 (1992).
7. Petrozzi L, Lucetti C, Gambaccini G et al.: Cytogenetic analysis oxidative damage in lymphocytes of Parkinson's disease patients. Neurol. Sci. 22, 83-84 (2001).
8. Caronti B, Tanda G, Colosimo C et al.: Reduced dopamine in peripheral blood lymphocytes in Parkinson's disease. Neuroreport 10, 2907-2910 (1999).
9. Caronti B, Antonini G, Calderaro C et al.: Dopamine transporter immunoreactivity in peripheral blood lymphocytes in Parkinson's disease. J. Neural Transm. 108, 803-807 (2001).
10. Nagai Y, Ueno S, Saeki Y, Soga F, Hirano M, Yanagihara T: Decrease of the D3 dopamine receptor mRNA expression in lymphocytes from patients with Parkinson's disease. Neurology 46, 791-795 (1996).
11. Miller DW, Hague SM, Clarimon J et al.: α-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62, 1835-1838 (2004).
12. Sunada Y, Saito F, Matsumura K, Shimizu T: Differential expression of the parkin gene in the human brain and peripheral leukocytes. Neurosci. Lett. 254, 180-182 (1998).
13. Hughes AJ, Daniel SE, Kilford L, Lees AJ: Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatr. 55, 181-184 (1992).
14. Parkinson J: An Essay on the Shaking Palsy. Sherwood, Neely, and Jones, London, UK (1817).
15. Manolio T: Novel risk markers and clinical practice. N. Engl. J. Med. 349, 1587-1589 (2003).
16. National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III): Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) final report. Circulation 106, 3143-3421 (2002).
17. Kieburtz K, Ravina B: Why hasn't neuroprotection worked in Parkinson's disease? Nat. Clin. Pract. Neurol. 3, 240-241 (2007).
18. Maraganore DM, de Andrade M, Elbaz A et al.: Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease. JAMA 296, 661-670 (2006).
19. Wenning GK, Shephard B, Hawkes C, Petruckevitch A, Lees A, Quinn N: Olfactory function in a typical parkinsonian syndromes. Acta Neurol. Scand. 91, 247-250 (1995).
20. Scherfler C, Schwarz J, Antonini A et al. Role of DAT-SPECT in the diagnostic work up of Parkinsonism. Mov. Disord. 22, 1229-1238 (2007).
21. Berg D: Transcranial sonography in the early and differential diagnosis of Parkinson's disease. J. Neural Transm. Suppl. 70, 249-254 (2006).
22. Huang C, Tang C, Feigin A et al.: Changes in network activity with the progression of Parkinson's disease. Brain 130, 1834-1846 (2007).
23. Scherzer CR, Jensen RV, Gullans SR: Simplifying complex neurodegenerative diseases by gene chip analysis. In: Principles of Molecular Neurosurgery Freese A, Simeone FA, Leone P, Janson C (Eds). Karger, Basel, Switzerland 246-257 (2004).
24. Scherzer CR, Jensen RV, Gullans SR, Feany: Gene expression changes presage neurodegeneration in a Drosophila model of Parkinson's disease. Hum. Mol. Genet. 12, 2457-2466 (2003).
25. Hauser MA, Li YJ, Xu H et al. Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism. Arch. Neurol. 62, 917-921 (2005)
26. Duke DC, Moran LB, Kalaitzakis ME et al.: Transcriptome analysis reveals link between proteasomal and mitochondrial pathways in Parkinson's disease. Neurogenetics7, 139-148 (2006).
27. Grunblatt E, Mandel S, Jacob-Hirsch J et al.: Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion/cellular matrix and vesicle trafficking genes. J. Neural Transm. 111, 1543-1573 (2004).
28. Schemer CR, Eklund AC, Morse LJ et al.: Molecular markers of early Parkinson's disease based on gene expression in blood. Proc. Natl Acad. Sci. USA 104, 955-960 (2007).
29. Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M: Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta, Neurol. Scand. 89, 347-352 (1994).
30. Ramirez A, Heimbach A, Grundemann J et al.: Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38, 1184-1191 (2006).
31. Tabchy A, Housman D: Huntington's disease: a transcriptional report card from the peripheral blood: can it measure disease progression in Huntington's disease? Eur. J. Hum. Genet. 14, 649-650 (2006).
32. Scherzer CR, Offe K, Gearing M et al.: Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch. Neurol. 61, 1200-1205 (2004).
33. Offe K, Dodson SE, Shoemaker JT et al.: The lipoprotein receptor LR11 regulates amyloid β production and amyloid precursor protein traffic in endosomal compartments. J. Neurosci. 26, 1596-1603 (2006).
34. Andersen OM, Reiche J, Schmidt V et al.: Neuronal sorting protein-related receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc. Natl Acad. Sci. USA 102, 13461-13466 (2005).
35. Rogaeva E, Meng Y, Lee JH et al.: The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat. Genet. 39, 168-177 (2007).
36. Marx J: Trafficking protein suspected in Alzheimer's disease. Science 315(5810), 314 (2007).
37. Lee JH, Cheng R, Schupf N et al.: The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort. Arch. Neurol. 64, 501-506 (2007).
38. Lee JH, Cheng R, Honig LS, Vonsattel JP, Clark L, Mayeux R: The association between genetic variants in SORL1 and autopsy-confirmed Alzheimer disease. Neurology (2007) (Epub ahead of print).
39. Li Y, Rowland C, Catanese J et al.: SORL1 variants and risk of late-onset Alzheimer's disease. Neurobiol. Dis. (2007) (Epub ahead of print).
40. Forman MS, Lee VM, Trojanowski JQ: Nosology of Parkinson's disease: looking for the way out of a quagmire. Neuron 47, 479-482 (2005).
41. van 't Veer LJ, Dai H, van de Vijver MJ et al.: Gene expression profiling predicts clinical outcome of breast cancer. Nature 415, 530-536 (2002).
42. Klucken J, Shin Y, Masliah E, Hyman BT, McLean PJ: Hsp70 reduces α-synuclein aggregation and toxicity. J. Biol. Chem. 279, 25497-25502(2004).
43. Nollen EA, Kabakov AE, Brunsting IF, Kanon B, Hohfeld J, Kampinga HH: Modulation of in vivo HSP70 chaperone activity by Hip and Bag-1. J. Biol. Chem. 276, 4677-4682 (2001).
44. Hohfeld J, Minami Y, Hartl FU: Hip, a novel cochaperone involved in the eukaryotic Hsc70/Hsp40 reaction cycle. Cell 83, 589-598 (1995).
45. Flower TR, Chesnokova LS, Froelich CA, Dixon C, Witt SN: Heat shock prevents α-synuclein-induced apoptosis in a yeast model of Parkinson's disease. J. Mol. Biol. 351, 1081-1100 (2005).
46. Auluck PK, Chan HY, Trojanowski JQ, Lee VM, Bonini NM: Chaperone suppression of α-synuclein toxicity in a Drosophila model for Parkinson's disease. Science 295, 865-868 (2002).
47. Grunblatt E, Mandel S, Maor G, Youdim MB: Gene expression analysis in N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine mice model of Parkinson's disease using cDNA microarray: effect of R-apomorphine. J. Neurochem. 78, 1-12 (2001).
48. Shi L, Reid LH, Jones WD et al.: The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements. Nat. Biotechnol. 24, 1151-1161 (2006).
49. Michiels S, Koscielny S, Hill C: Prediction of cancer outcome with microarrays: a multiple random validation strategy. Lancet 365, 488-492 (2005).
50. Tumor Analysis Best Practices Working Group: Expression profiling - best practices for data generation and interpretation in clinical trials. Nat. Rev. Genet. 5, 229-237 (2004).
51. Hughes AJ, Daniel SE, Ben-Shlomo Y, Lees AJ: The accuracy of diagnosis of parkinsonian syndromes in a specialist movement disorder service. Brain 125, 861-870 (2002).
52. Crum RM, Anthony JC, Bassett SS, Folstein MF: Population-based norms for the Mini-Mental State Examination by age and educational level. JAMA 269, 2386-2391 (1993).
53. Rocca WA, Maraganore DM, McDonnell SK, Schaid DJ: Validation of a telephone questionnaire for Parkinson's disease. J. Clin. Epidemiol. 51, 517-523 (1998).
54. Auer H, Lynanarachchi S, Newsom D, Klisovic MI, Marcucci G, Kornacker K: Chipping away at the chip bias: RNA degradation in microarray analysis. Nat. Genet. 35, 292-293 (2003).
55. Imbeaud S, Graudens E, Boulanger V et al.: Towards standardization of RNA quality assessment using user-independent classifiers of microcapillary electrophoresis traces. Nucleic Acids Res. 33, E56 (2005).
56. Ransohoff DF: Rules of evidence for cancer molecular-marker discovery and validation. Nat. Rev. Cancer 4, 309-314 (2004).
57. Ludwig JA, Weinstein JN: Biomarkers in cancer staging, prognosis and treatment selection. Nat. Rev. Cancer 5, 845-856 (2005).
58. Ntzani EE, Ioannidis JP: Predictive ability of DNA microarrays for cancer outcomes and correlates: an empirical assessment. Lancet 362, 1439-1444 (2003).
59. Wang R, Lagakos SW, Ware JH, Hunter DJ, Drazen JM: Statistics in medicine - reporting of subgroup analyses in clinical trials. N. Engl. J. Med. 357, 2189-2194 (2007).
60. Paik S, Shak S, Tang G et al.: A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N. Engl. J. Med. 351, 2817-2826 (2004).
61. Paik S: Development and clinical utility of a 21-gene recurrence score prognostic assay in patients with early breast cancer treated with tamoxifen. Oncologist 12, 631-635 (2007).
62. Alonso A, Molenberghs G, Geys H, Buyse M, Vangeneugden T: A unifying approach for surrogate marker validation based on Prentice's criteria. Stat. Med. 25, 205-221 (2006).
63. Schadt EE, Lamb J, Yang X et al.: An integrative genomics approach to infer causal associations between gene expression and disease. Nat. Genet. 37, 710-717 (2005).