Molecular diagnostics of neurodegenerative disorders

Frontiers in Molecular Biosciences

Volumn 2, Issue SEP, 2015, Pages

  Agrawal, Megha ^a   Biswas, Abhijit ^b  

^a University of Arkansas at Little Rock ^*  (United States)

^b University of Notre Dame   (United States)

Author keywords

Alzheimer's disease; Amyotrophic lateral sclerosis; Biomarkers; Huntington's disease; MiRNAs; Neurodegeneration; Neurons; Parkinson's disease

Indexed keywords

EID: 84964548788     PISSN: None     EISSN: 2296889X     Source Type: Journal    
DOI: 10.3389/fmolb.2015.00054     Document Type: Review

References (75)

1. Alvarez-Erviti, L., Seow, Y., Schapira, A. H., Gardiner, C., Sargent, I. L., Wood, M. J., et al. (2011). Lysosomal dysfunction increases exosome-mediated alpha-synuclein release and transmission. Neurobiol. Dis. 42, 360-367. doi: 10.1016/j.nbd.2011.01.029
2. Aziz, N. A., Anguelova, G. V., Marinus, J., Lammers, G. J., and Roos, R. A. (2010). Sleep and circadian rhythm alterations correlate with depression and cognitive impairment in Huntington's disease. Parkinsonism Relat. Disord. 16, 345-350. doi: 10.1016/j.parkreldis.2010.02.009
3. Bekris, L. M., Yu, C. E., Bird, T. D., and Tsuang, D. W. (2010). Genetics of Alzheimer disease. J. Geriatr. Psychiatry Neurol. 23, 213-227. doi: 10.1177/0891988710383571
4. Berezovska, O., Ramdya, P., Skoch, J., Wolfe, M. S., Bacskai, B. J., and Hyman, B. T. (2003). Amyloid precursor protein associates with a nicastrin-dependent docking site on the presenilin 1-gamma-secretase complex in cells demonstrated by fluorescence lifetime imaging. J. Neurosci. 23, 4560-4566
5. Bogdanov, M., Brown, R. H., Matson, W., Smart, R., Hayden, D., O'Donnell, H., et al. (2000). Increased oxidative damage to DNA in ALS patients. Free Radic. Biol. Med. 29, 652-658. doi: 10.1016/S0891-5849(00)00349-X
6. Bokde, A. L. W., Meaney, J. F. M., Sheehy, N. P., Reilly, R. B., Abrahams, S., and Doherty, C. P. (2011). Advances in diagnostics for neurodegenerative disorders. Neurodegener. Dis. 2, 17-42. doi: 10.1007/978-1-84996-011-3_2
7. Bonifati, V., Rizzu, P., van Baren, M. J., Schaap, O., Breedveld, G. J., Krieger, E., et al. (2003). Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299, 256-259. doi: 10.1126/science.1077209
8. Borovecki, F., Lovrecic, L., Zhou, J., Jeong, H., Then, F., Rosas, H. D., et al. (2005). Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease. Proc. Natl. Acad. Sci. U.S.A. 102, 11023-11028. doi: 10.1073/pnas.0504921102
9. Calvo, A. C., Manzano, R., Mendonça, D. M., Muñoz, M. J., Zaragoza, P., and Osta, R. (2014). Amyotrophic lateral sclerosis: a focus on disease progression. Biomed Res. Int. 2014:925101. doi: 10.1155/2014/925101
10. Chen, C. M., Wu, Y. R., Cheng, M. L., Liu, J. L., Lee, Y. M., Lee, P. W., et al. (2007). Increased oxidative damage and mitochondrial abnormalities in the peripheral blood of Huntington's disease patients. Biochem. Biophys. Res. Commun. 359, 335-340. doi: 10.1016/j.bbrc.2007.05.093
11. Chung, S., Sonntag, K. C., Andersson, T., Bjorklund, L. M., Park, J. J., Kim, D. W., et al. (2002). Genetic engineering of mouse embryonic stem cells by Nurr1 enhances differentiation and maturation into dopaminergic neurons. Eur. J. Neurosci. 16, 1829-1838. doi: 10.1046/j.1460-9568.2002.02255.x
12. Ciurleo, R., Di Lorenzo, G., Bramanti, P., and Marino, S. (2014). Magnetic resonance spectroscopy: an in vivo molecular imaging biomarker for Parkinson's disease? Biomed Res. Int. 2014:519816. doi: 10.1155/2014/519816
13. Cova, E., Bongioanni, P., Cereda, C., Metelli, M. R., Salvaneschi, L., Bernuzzi, S., et al. (2010). Time course of oxidant markers and antioxidant defenses in subgroups of amyotrophic lateral sclerosis patients. Neurochem. Int. 56, 687-693. doi: 10.1016/j.neuint.2010.02.004
14. Dalrymple, A., Wild, E. J., Joubert, R., Sathasivam, K., Björkqvist, M., Petersén, A., et al. (2007). Proteomic profiling of plasma in Huntington's disease reveals neuroinflammatory activation and biomarker candidates. J. Proteome Res. 6, 2833-2840. doi: 10.1021/pr0700753
15. DeCarli, C. (2003). Mild cognitive impairment: prevalence, prognosis, aetiology, and treatment. Lancet Neurol. 2, 15-21. doi: 10.1016/S1474-4422(03)00262-X
16. DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., et al. (2011). Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256. doi: 10.1016/j.neuron.2011.09.011
17. Dekker, M., Bonifati, V., van Swieten, J., Leenders, N., Galjaard, R. J., Snijders, P., et al. (2003). Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov. Disord. 18, 751-757. doi: 10.1002/mds.10422
18. Duyckaerts, C., and Hauw, J. J. (2003). Lewy bodies, a misleading marker for Parkinson's disease? Bull. Acad. Natl. Med. 187, 277-292. discussion: 292-273
19. el-Agnaf, O. M., and Irvine, G. B. (2002). Aggregation and neurotoxicity of alpha-synuclein and related peptides. Biochem. Soc. Trans. 30, 559-565. doi: 10.1042/bst0300559
20. Fergani, A., Dupuis, L., Jokic, N., Larmet, Y., de Tapia, M., Rene, F., et al. (2005). Reticulons as markers of neurological diseases: focus on amyotrophic lateral sclerosis. Neurodegener. Dis. 2, 185-194. doi: 10.1159/000089624
21. Figueroa-Romero, C., Hur, J., Bender, D. E., Delaney, C. E., Cataldo, M. D., Smith, A. L., et al. (2012). Identification of epigenetically altered genes in sporadic amyotrophic lateral sclerosis. PLoS ONE 7:e52672. doi: 10.1371/journal.pone.0052672
22. Gasser, T., Bressman, S., Durr, A., Higgins, J., Klockgether, T., and Myers, R. H. (2003). State of the art review: molecular diagnosis of inherited movement disorders. Movement Disorders Society task force on molecular diagnosis. Mov. Disord. 18, 3-18. doi: 10.1002/mds.10338
23. Gasser, T., Dichgans, M., Finsterer, J., Hausmanowa-Petrusewicz, I., Jurkat-Rott, K., Klopstock, T., et al. (2001a). EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. First of two parts. Eur. J. Neurol. 8, 299-314. doi: 10.1046/j.1468-1331.2001.00226.x
24. Gasser, T., Dichgans, M., Finsterer, J., Hausmanowa-Petrusewicz, I., Jurkat-Rott, K., Klopstock, T., et al. (2001b). EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. Eur. J. Neurol. 8, 407-424. doi: 10.1046/j.1468-1331.2001.00228.x
25. Goodall, E. F., Heath, P. R., Bandmann, O., Kirby, J., and Shaw, P. J. (2013). Neuronal dark matter: the emerging role of microRNAs in neurodegeneration. Front. Cell. Neurosci. 7:178. doi: 10.3389/fncel.2013.00178
26. Grasso, M., Piscopo, P., Confaloni, A., and Denti, M. A. (2014). Circulating miRNAs as biomarkers for neurodegenerative disorders. Molecules 19, 6891-6910. doi: 10.3390/molecules19056891
27. Hardy, J., and Selkoe, D. J. (2002). The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 297, 353-356. doi: 10.1126/science.1072994
28. Harvey, P. D. (2012). Clinical applications of neuropsychological assessment. Dialogues Clin. Neurosci. 14, 91-99
29. Hu, Y., Chopra, V., Chopra, R., Locascio, J. J., Liao, Z., Ding, H., et al. (2011). Transcriptional modulator H2A histone family, member Y (H2AFY) marks Huntington disease activity in man and mouse. Proc. Natl. Acad. Sci. U.S.A. 108, 17141-17146. doi: 10.1073/pnas.1104409108
30. Jankovic, J., Rajput, A. H., McDermott, M. P., and Perl, D. P. (2000). The evolution of diagnosis in early Parkinson disease. Parkinson Study Group. Arch. Neurol. 57, 369-372. doi: 10.1001/archneur.57.3.369
31. Joyce, N. C., and Carter, G. T. (2013). Electrodiagnosis in persons with amyotrophic lateral sclerosis. PM R 5, S89-S95. doi: 10.1016/j.pmrj.2013.03.020
32. Lachenal, G., Pernet-Gallay, K., Chivet, M., Hemming, F. J., Belly, A., Bodon, G., et al. (2011). Release of exosomes from differentiated neurons and its regulation by synaptic glutamatergic activity. Mol. Cell. Neurosci. 46, 409-418. doi: 10.1016/j.mcn.2010.11.004
33. Leroy, E., Boyer, R., Auburger, G., Leube, B., Ulm, G., Mezey, E., et al. (1998). The ubiquitin pathway in Parkinson's disease. Nature 395, 451-452. doi: 10.1038/26652
34. Lin, J., Li, J., Huang, B., Liu, J., Chen, X., Chen, X. M., et al. (2015). Exosomes: novel biomarkers for clinical diagnosis. ScientificWorldJournal 2015:657086. doi: 10.1155/2015/657086
35. Loane, C., and Politis, M. (2011). Positron emission tomography neuroimaging in Parkinson's disease. Am. J. Transl. Res. 3, 323-341
36. Lovrecic, L., Kastrin, A., Kobal, J., Pirtosek, Z., Krainc, D., and Peterlin, B. (2009). Gene expression changes in blood as a putative biomarker for Huntington's disease. Mov. Disord. 24, 2277-2281. doi: 10.1002/mds.22477
37. Mapstone, M., Cheema, A. K., Fiandaca, M. S., Zhong, X., Mhyre, T. R., Macarthur, L. H., et al. (2014). Plasma phospholipids identify antecedent memory impairment in older adults. Nat. Med. 20, 415-418. doi: 10.1038/nm.3466
38. Marek, K., Seibyl, J., and Holloway, R. (2000). A multicenter assessment of dopamine transporter imaging with DOPASCAN/SPECT in parkinsonism. Parkinson Study Group. Neurology 55, 1540-1547. doi: 10.1212/WNL.55.10.1540
39. Margis, R., Margis, R., and Rieder, C. R. (2011). Identification of blood microRNAs associated to Parkinsonis disease. J. Biotechnol. 152, 96-101. doi: 10.1016/j.jbiotec.2011.01.023
40. Martin, L. J., and Wong, M. (2013). Aberrant regulation of DNA methylation in amyotrophic lateral sclerosis: a new target of disease mechanisms. Neurotherapeutics 10, 722-733. doi: 10.1007/s13311-013-0205-6
41. Mastrokolias, A., Ariyurek, Y., Goeman, J. J., van Duijn, E., Roos, R. A., van Der Mast, R. C., et al. (2015). Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood. Eur. J. Hum. Genet. doi: 10.1038/ejhg.2014.281. [Epub ahead of print]
42. Mesko, B., Poliska, S., Szegedi, A., Szekanecz, Z., Palatka, K., Papp, M., et al. (2010). Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets. BMC Med. Genomics 3:15. doi: 10.1186/1755-8794-3-15
43. Miller, D. B., and O'Callaghan, J. P. (2015). Biomarkers of Parkinson's disease: present and future. Metabolism 64, S40-S46. doi: 10.1016/j.metabol.2014.10.030
44. Molochnikov, L., Rabey, J. M., Dobronevsky, E., Bonucelli, U., Ceravolo, R., Frosini, D., et al. (2012). A molecular signature in blood identifies early Parkinson's disease. Mol. Neurodegener. 7:26. doi: 10.1186/1750-1326-7-26
45. Pankratz, N., Nichols, W. C., Uniacke, S. K., Halter, C., Rudolph, A., Shults, C., et al. (2003). Significant linkage of Parkinson disease to chromosome 2q36-37. Am. J. Hum. Genet. 72, 1053-1057. doi: 10.1086/374383
46. Peterson, D. A. (2002). Stem cells in brain plasticity and repair. Curr. Opin. Pharmacol. 2, 34-42. doi: 10.1016/S1471-4892(01)00118-7
47. Philips, T., and Robberecht, W. (2011). Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease. Lancet Neurol. 10, 253-263. doi: 10.1016/S1474-4422(11)70015-1
48. Posner, H. B., Cano, S., Carrillo, M. C., Selnes, O., Stern, Y., Thomas, R. G., et al. (2013). Establishing the psychometric underpinning of cognition measures for clinical trials of Alzheimer's disease and its precursors: a new approach. Alzheimers Dement. 9, S56-S60. doi: 10.1016/j.jalz.2012.10.008
49. Poulopoulou, C., Davaki, P., Koliaraki, V., Kolovou, D., Markakis, I., and Vassilopoulos, D. (2005). Reduced expression of metabotropic glutamate receptor 2mRNA in T cells of ALS patients. Ann. Neurol. 58, 946-949. doi: 10.1002/ana.20675
50. Rachakonda, V., Pan, T. H., and LE, W. D. (2004). Biomarkers of neurodegenerative disorders: how good are they? Cell Res. 14, 347-358. doi: 10.1038/sj.cr.7290235
51. Rajendran, L., Honsho, M., Zahn, T. R., Keller, P., Geiger, K. D., Verkade, P., et al. (2006). Alzheimer's disease beta-amyloid peptides are released in association with exosomes. Proc. Natl. Acad. Sci. U.S.A. 103, 11172-11177. doi: 10.1073/pnas.0603838103
52. Robelin, L., and Gonzalez De Aguilar, J. L. (2014). Blood biomarkers for amyotrophic lateral sclerosis: myth or reality? Biomed Res. Int. 2014:525097. doi: 10.1155/2014/525097
53. Runne, H., Regulier, E., Kuhn, A., Zala, D., Gokce, O., Perrin, V., et al. (2008). Dysregulation of gene expression in primary neuron models of Huntington's disease shows that polyglutamine-related effects on the striatal transcriptome may not be dependent on brain circuitry. J. Neurosci. 28, 9723-9731. doi: 10.1523/JNEUROSCI.3044-08.2008
54. Russo, I., Bubacco, L., and Greggio, E. (2012). Exosomes-associated neurodegeneration and progression of Parkinson's disease. Am. J. Neurodegener. Dis. 1, 217-225
55. Sair, H. I., Doraiswamy, P. M., and Petrella, J. R. (2004). In vivo amyloid imaging in Alzheimer's disease. Neuroradiology 46, 93-104. doi: 10.1007/s00234-003-1034-9
56. Saman, S., Kim, W., Raya, M., Visnick, Y., Miro, S., Saman, S., et al. (2012). Exosome-associated tau is secreted in tauopathy models and is selectively phosphorylated in cerebrospinal fluid in early Alzheimer disease. J. Biol. Chem. 287, 3842-3849. doi: 10.1074/jbc. M111.277061
57. Sheinerman, K. S., Tsivinsky, V. G., Crawford, F., Mullan, M. J., Abdullah, L., and Umansky, S. R. (2012). Plasma microRNA biomarkers for detection of mild cognitive impairment. Aging. 4, 590-605
58. Shinde, S., Mukhopadhyay, S., Mohsen, G., and Khoo, S. K. (2015). Biofluid-based microRNA biomarkers for Parkinsons disease: an overview and update. AIMS Med. Sci. 2, 15-25. doi: 10.3934/medsci.2015.1.15
59. Shinto, A. S., Antony, J., Kamaleshwaran, K., Vijayan, K., Selvan, A., Korde, A., et al. (2014). Correlative (99m)tc-labeled tropane derivative single photon emission computer tomography and clinical assessment in the staging of Parkinson disease. World J. Nucl. Med. 13, 178-183. doi: 10.4103/1450-1147.144818
60. Sjögren, M., Andreasen, N., and Blennow, K. (2003). Advances in the detection of Alzheimer's disease-use of cerebrospinal fluid biomarkers. Clin. Chim. Acta 332, 1-10. doi: 10.1016/S0009-8981(03)00121-9
61. Soreq, L., Salomonis, N., Bronstein, M., Greenberg, D. S., Israel, Z., Bergman, H., et al. (2013). Small RNA sequencing-microarray analyses in Parkinson leukocytes reveal deep brain stimulation-induced splicing changes that classify brain region transcriptomes. Front. Mol. Neurosci. 6:10. doi: 10.3389/fnmol.2013.00010
62. Sturrock, A., Laule, C., Wyper, K., Milner, R. A., Decolongon, J., Dar Santos, R., et al. (2015). A longitudinal study of magnetic resonance spectroscopy Huntington's disease biomarkers. Mov. Disord. 30, 393-401. doi: 10.1002/mds.26118
63. Sunderland, T., Linker, G., Mirza, N., Putnam, K. T., Friedman, D. L., Kimmel, L. H., et al. (2003). Decreased beta-amyloid1-42 and increased tau levels in cerebrospinal fluid of patients with Alzheimer disease. JAMA 289, 2094-2103. doi: 10.1001/jama.289.16.2094
64. Tissingh, G., Bergmans, P., Booij, J., Winogrodzka, A., Stoof, J. C., Wolters, E. C., et al. (1997). [123I]beta-CIT single-photon emission tomography in Parkinson's disease reveals a smaller decline in dopamine transporters with age than in controls. Eur. J. Nucl. Med. 24, 1171-1174. doi: 10.1007/BF01254252
65. Torrent, R., De Angelis Rigotti, F., Dell'era, P., Memo, M., Raya, A., and Consiglio, A. (2015). Using iPS cells toward the understanding of Parkinson's disease. J. Clin. Med. 4, 548-566. doi: 10.3390/jcm4040548
66. Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M., Harvey, K., Gispert, S., et al. (2004). Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304, 1158-1160. doi: 10.1126/science.1096284
67. van Den Bogaard, S. J., Dumas, E. M., Teeuwisse, W. M., Kan, H. E., Webb, A., van Buchem, M. A., et al. (2014). Longitudinal metabolite changes in Huntington's disease during disease onset. J. Huntingtons. Dis. 3, 377-386. doi: 10.3233/JHD-140117
68. Venancio, T. M., and Aravind, L. (2010). CYSTM, a novel cysteine-rich transmembrane module with a role in stress tolerance across eukaryotes. Bioinformatics 26, 149-152. doi: 10.1093/bioinformatics/btp647
69. Weir, D. W., Sturrock, A., and Leavitt, B. R. (2011). Development of biomarkers for Huntington's disease. Lancet Neurol. 10, 573-590. doi: 10.1016/S1474-4422(11)70070-9
70. Wild, E. J., Boggio, R., Langbehn, D., Robertson, N., Haider, S., Miller, J. R., et al. (2015). Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J. Clin. Invest. 125, 1979-1986. doi: 10.1172/JCI80743
71. Wood, N. I., Goodman, A. O., van der Burg, J. M., Gazeau, V., Brundin, P., Björkqvist, M., et al. (2008). Increased thirst and drinking in Huntington's disease and the R6/2 mouse. Brain Res. Bull. 76, 70-79. doi: 10.1016/j.brainresbull.2007.12.007
72. Wurtman, R. (2015). Biomarkers in the diagnosis and management of Alzheimer's disease. Metabolism 64, S47-S50. doi: 10.1016/j.metabol.2014.10.034
73. Xi, Y., Nakajima, G., Gavin, E., Morris, C. G., Kudo, K., Hayashi, K., et al. (2007). Systematic analysis of microRNA expression of RNA extracted from fresh frozen and formalin-fixed paraffin-embedded samples. RNA 13, 1668-1674. doi: 10.1261/rna.642907
74. Young, A. B. (2009). Four decades of neurodegenerative disease research: how far we have come! J. Neurosci. 29, 12722-12728. doi: 10.1523/JNEUROSCI.3767-09.2009
75. Zhai, W., Jeong, H., Cui, L., Krainc, D., and Tjian, R. (2005). In vitro analysis of huntingtin-mediated transcriptional repression reveals multiple transcription factor targets. Cell 123, 1241-1253. doi: 10.1016/j.cell.2005.10.030