Cerebrospinal fluid Aβ42 levels and APP processing pathway genes in Parkinson's disease

Movement Disorders

Volumn 30, Issue 7, 2015, Pages 936-944

  Bekris, Lynn M ^a   Tsuang, Debby W ^b,d   Peskind, Elaine R ^b,d   Yu, Chang E ^b,c   Montine, Thomas J ^b,d   Zhang, Jing ^b,d   Zabetian, Cyrus P ^b,d   Leverenz, James B ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

^b VA PUGET SOUND HEALTH CARE SYSTEM   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

ADAM10; APH1B; APP; BACE1; BACE2; Cerebrospinal fluid; NCSTN; Parkinson's disease; PEN2; PSEN1; PSEN2

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN E4; AMYLOID BETA PROTEIN; AMYLOID BETA-PROTEIN (1-42); BIOLOGICAL MARKER; PEPTIDE FRAGMENT; SECRETASE;

ADAM10 GENE; ADULT; AGE; AGED; APH1B GENE; APP GENE; ARTICLE; BACE1 GENE; BACE2 GENE; CEREBROSPINAL FLUID; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENDER; GENE; GENE LOCATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NCSTN GENE; PARKINSON DISEASE; PEN2 GENE; PRIORITY JOURNAL; PROTEIN PROCESSING; PSEN1 GENE; PSEN2 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; GENETICS; MIDDLE AGED; VERY ELDERLY;

AGED; AGED, 80 AND OVER; AMYLOID BETA-PEPTIDES; AMYLOID BETA-PROTEIN PRECURSOR; AMYLOID PRECURSOR PROTEIN SECRETASES; APOLIPOPROTEIN E4; BIOMARKERS; FEMALE; HUMANS; MALE; MIDDLE AGED; PARKINSON DISEASE; PEPTIDE FRAGMENTS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84931832640     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.26172     Document Type: Article

References (66)

1. Zetterberg H, Lunn MP, Herukka SK. Clinical use of cerebrospinal fluid biomarkers in Alzheimer's disease. Biomark Med 2012;6:371-376.
2. Parnetti L, Castrioto A, Chiasserini D, Persichetti E, Tambasco N, El-Agnaf O, Calabresi P. Cerebrospinal fluid biomarkers in Parkinson disease. Nat Rev Neurol 2013;9:131-140.
3. Postina R. A closer look at alpha-secretase. Curr Alzheimer Res 2008;5:179-186.
4. Deuss M, Reiss K, Hartmann D. Part-time alpha-secretases: the functional biology of ADAM 9, 10 and 17. Curr Alzheimer Res 2008;5:187-201.
5. Postina R, Schroeder A, Dewachter I, et al. A disintegrin-metalloproteinase prevents amyloid plaque formation and hippocampal defects in an Alzheimer disease mouse model. J Clin Invest 2004;113:1456-1464.
6. Colciaghi F, Borroni B, Pastorino L, et al. [alpha]-Secretase ADAM10 as well as [alpha]APPs is reduced in platelets and CSF of Alzheimer disease patients. Mol Med 2002;8:67-74.
7. Qin W, Ho L, Wang J, Peskind E, Pasinetti GM. S100A7, a novel Alzheimer's disease biomarker with non-amyloidogenic alpha-secretase activity acts via selective promotion of ADAM-10. PLoS ONE 2009;4:e4183.
8. Zetterberg H, Andreasson U, Hansson O, et al. Elevated cerebrospinal fluid BACE1 activity in incipient Alzheimer disease. Arch Neurol 2008;65:1102-1107.
9. Wu G, Sankaranarayanan S, Tugusheva K, et al. Decrease in age-adjusted cerebrospinal fluid beta-secretase activity in Alzheimer's subjects. Clin Biochem 2008;41:986-996.
10. Ewers M, Zhong Z, Bürger K, et al. Increased CSF-BACE 1 activity is associated with ApoE-epsilon 4 genotype in subjects with mild cognitive impairment and Alzheimer's disease. Brain 2008;131:1252-1258.
11. Sun X, Wang Y, Qing H, et al. Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes. FASEB J 2005;19:739-749.
12. Stockley JH, O'Neill C. The proteins BACE1 and BACE2 and beta-secretase activity in normal and Alzheimer's disease brain. Biochem Soc Trans 2007;35:574-576.
13. Francis R, McGrath G, Zhang J, et al. aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation. Dev Cell 2002;3:85-97.
14. Baulac S, LaVoie MJ, Kimberly WT, Strahle J, Wolfe MS, Selkoe DJ, Xia W. Functional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substrates. Neurobiol Dis 2003;14:194-204.
15. Kimberly WT, LaVoie MJ, Ostaszewski BL, Ye W, Wolfe MS, Selkoe DJ. Gamma-secretase is a membrane protein complex comprised of presenilin, nicastrin, Aph-1, and Pen-2. Proc Natl Acad Sci U S A 2003;100:6382-6387.
16. Shirotani K, Edbauer D, Prokop S, Haass C, Steiner H. Identification of distinct gamma-secretase complexes with different APH-1 variants. J Biol Chem 2004;279:41340-41345.
17. Lee SF, Shah S, Yu C, et al. A conserved GXXXG motif in APH-1 is critical for assembly and activity of the gamma-secretase complex. J Biol Chem 2004;279:4144-4152.
18. Zhang YW, Luo WJ, Wang H, et al. Nicastrin is critical for stability and trafficking but not association of other presenilin/gamma-secretase components. J Biol Chem 2005;280:17020-17026.
19. Watanabe N, Tomita T, Sato C, Kitamura T, Morohashi Y, Iwatsubo T. Pen-2 is incorporated into the gamma-secretase complex through binding to transmembrane domain 4 of presenilin 1. J Biol Chem 2005;280:41967-41975.
20. Prokop S, Shirotani K, Edbauer D, Haass C, Steiner H. Requirement of PEN-2 for stabilization of the presenilin N-/C-terminal fragment heterodimer within the gamma-secretase complex. J Biol Chem 2004;279:23255-23261.
21. Goedert M, Spillantini MG. A century of Alzheimer's disease. Science 2006;314:777-781.
22. Goedert M, Klug A, Crowther RA. Tau protein, the paired helical filament and Alzheimer's disease. J Alzheimers Dis 2006;9:195-207.
23. Scheuner D, Eckman C, Jensen M, et al. Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease. Nat Med 1996;2:864-870.
24. Walker LC, Ibegbu CC, Todd CW, Robinson HL, Jucker M, LeVine H 3rd, Gandy S. Emerging prospects for the disease-modifying treatment of Alzheimer's disease. Biochem Pharmacol 2005;69:1001-1008.
25. Giaccone G, Tagliavini F, Linoli G, Bouras C, Frigerio L, Frangione B, Bugiani O. Down patients: extracellular preamyloid deposits precede neuritic degeneration and senile plaques. Neurosci Lett 1989;97:232-238.
26. Lemere CA, Blusztajn JK, Yamaguchi H, Wisniewski T, Saido TC, Selkoe DJ. Sequence of deposition of heterogeneous amyloid beta-peptides and APO E in Down syndrome: implications for initial events in amyloid plaque formation. Neurobiol Dis 1996;3:16-32.
27. Englund H, Annerén G, Gustafsson J, et al. Increase in beta-amyloid levels in cerebrospinal fluid of children with Down syndrome. Dement Geriatr Cogn Disord 2007;24:369-374.
28. Leverenz JB, Raskind MA. Early amyloid deposition in the medial temporal lobe of young Down syndrome patients: a regional quantitative analysis. Exp Neurol 1998;150:296-304.
29. Guyant-Marechal L, Rovelet-Lecrux A, Goumidi L, et al. Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology 2007;68:684-687.
30. Lv H, Jia L, Jia J. Promoter polymorphisms which modulate APP expression may increase susceptibility to Alzheimer's disease. Neurobiol Aging 2008;29:194-202.
31. Fagan AM, Mintun MA, Mach RH, et al. Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Abeta42 in humans. Ann Neurol 2006;59:512-519.
32. Visser PJ, Verhey F, Knol DL, et al. Prevalence and prognostic value of CSF markers of Alzheimer's disease pathology in patients with subjective cognitive impairment or mild cognitive impairment in the DESCRIPA study: a prospective cohort study. Lancet Neurol 2009;8:619-627.
33. Tapiola T, Alafuzoff I, Herukka SK, Parkkinen L, Hartikainen P, Soininen H, Pirttilä T. Cerebrospinal fluid {beta}-amyloid 42 and tau proteins as biomarkers of Alzheimer-type pathologic changes in the brain. Arch Neurol 2009;66:382-389.
34. Peskind ER, Li G, Shofer J, et al. Age and apolipoprotein E*4 allele effects on cerebrospinal fluid beta-amyloid 42 in adults with normal cognition. Arch Neurol 2006;263:936-939.
35. Motter R, Vigo-Pelfrey C, Kholodenko D, et al. Reduction of beta-amyloid peptide42 in the cerebrospinal fluid of patients with Alzheimer's disease. Ann Neurol 1995;38:643-648.
36. Galasko D, Chang L, Motter R, et al. High cerebrospinal fluid tau and low amyloid beta42 levels in the clinical diagnosis of Alzheimer disease and relation to apolipoprotein E genotype. Arch Neurol 1998;55:937-945.
37. Sunderland T, Linker G, Mirza N, et al. Decreased beta-amyloid1-42 and increased tau levels in cerebrospinal fluid of patients with Alzheimer disease. JAMA 2003;289:2094-2103.
38. Siderowf A, Xie SX, Hurtig H, et al. CSF amyloid {beta} 1-42 predicts cognitive decline in Parkinson disease. Neurology 2010;75:1055-1061.
39. Kang JH, Irwin DJ, Chen-Plotkin AS, et al. Association of cerebrospinal fluid beta-amyloid 1-42, T-tau, P-tau181, and alpha-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. JAMA Neurol 2013;70:1277-1287.
40. Montine TJ, Shi M, Quinn JF, et al. CSF Abeta(42) and tau in Parkinson's disease with cognitive impairment. Mov Disord 2010;25:2682-2685.
41. Tsuang D, Leverenz JB, Lopez OL, et al. APOE epsilon4 increases risk for dementia in pure synucleinopathies. JAMA Neurol 2013;70:223-228.
42. Bekris LM, Leverenz JB, Lopez OL, et al. Amyloid precursor protein (APP) processing genes and cerebrospinal fluid APP cleavage product levels in Alzheimer's disease. Neurobiol Aging 2011;32:556.
43. Gibb WR, Lees AJ. A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988;38:1402-1406.
44. Morris JC, Weintraub S, Chui HC, et al. The Uniform Data Set (UDS): clinical and cognitive variables and descriptive data from Alzheimer Disease Centers. Alzheimer Dis Assoc Disord 2006;20:210-216.
45. Peskind ER, Riekse R, Quinn JF, et al. Safety and acceptability of the research lumbar puncture. Alzheimer Dis Assoc Disord 2005;19:220-225.
46. Shi M, Bradner J, Hancock AM, et al. Cerebrospinal fluid biomarkers for Parkinson disease diagnosis and progression. Ann Neurol 2011;69:570-580.
47. Bekris LM, Millard SP, Galloway NM, et al. Multiple SNPs within and surrounding the apolipoprotein E gene influence cerebrospinal fluid apolipoprotein E protein levels. J Alzheimers Dis 2008;13:255-266.
48. Kay DM, Stevens CF, Hamza TH, et al. A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 2010;75:1189-1194.
49. Lewis CM, Knight J. Introduction to genetic association studies. Cold Spring Harb Protoc 2012;297-306.
50. Dubois B, Feldman HH, 2 Jacova C, et al. Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet Neurol 2014;13:614-629.
51. Holmberg B, Johnels B, Blennow K, Rosengren L. Cerebrospinal fluid Abeta42 is reduced in multiple system atrophy but normal in Parkinson's disease and progressive supranuclear palsy. Mov Disord 2003;18:186-190.
52. Bibl M, Mollenhauer B, Esselmann H, et al. CSF amyloid-beta-peptides in Alzheimer's disease, dementia with Lewy bodies and Parkinson's disease dementia. Brain 2006;129:1177-1187.
53. Mollenhauer B, Trenkwalder C, von Ahsen N, et al. Beta-amlyoid 1-42 and tau-protein in cerebrospinal fluid of patients with Parkinson's disease dementia. Dement Geriatr Cogn Disord 2006;22:200-2008.
54. Zhang J, Sokal I, Peskind ER, et al. CSF multianalyte profile distinguishes Alzheimer and Parkinson diseases. Am J Clin Pathol 2008;129:526-529.
55. Parnetti L, Tiraboschi P, Lanari A, et al. Cerebrospinal fluid biomarkers in Parkinson's disease with dementia and dementia with Lewy bodies. Biol Psychiatry 2008;64:850-855.
56. Alves G, Brønnick K, Aarsland D, et al. CSF amyloid-beta and tau proteins, and cognitive performance, in early and untreated Parkinson's disease: the Norwegian ParkWest study. J Neurol Neurosurg Psychiatry 2010;81:1080-1086.
57. Andersson M, Zetterberg H, Minthon L, Blennow K, Londos E. The cognitive profile and CSF biomarkers in dementia with Lewy bodies and Parkinson's disease dementia. Int J Geriatr Psychiatry 2011;26:100-105.
58. Zhang J, Mattison HA, Liu C, et al. Longitudinal assessment of tau and amyloid beta in cerebrospinal fluid of Parkinson disease. Acta Neuropathol 2013;126:671-682.
59. Beyer MK, Alves G, Hwang KS, et al. Cerebrospinal fluid Abeta levels correlate with structural brain changes in Parkinson's disease. Mov Disord 2013;28:302-310.
60. Alves G, Pedersen KF, Bloem BR, et al. Cerebrospinal fluid amyloid-beta and phenotypic heterogeneity in de novo Parkinson's disease. J Neurol Neurosurg Psychiatry 2013;84:537-543.
61. Miar A, Alvarez V, Corao AI, et al. Amyloid precursor protein gene (APP) variation in late-onset Alzheimer's disease. J Mol Neurosci 2011;45:5-9.
62. Lahiri DK, Ge YW, Maloney B. Characterization of the APP proximal promoter and 5'-untranslated regions: identification of cell type-specific domains and implications in APP gene expression and Alzheimer's disease. FASEB J 2005;19:653-655.
63. Rosenbloom KR, Dreszer TR, Pheasant M, et al. ENCODE whole-genome data in the UCSC Genome Browser. Nucleic Acids Res 2010;38:D620-D625.
64. Serneels L, Van Biervliet J, Craessaerts K, et al. gamma-Secretase heterogeneity in the Aph1 subunit: relevance for Alzheimer's disease. Science 2009;324:639-642.
65. Mulugeta E, Londos E, Hansson O, et al. Cerebrospinal fluid levels of sAPPalpha and sAPPbeta in Lewy body and Alzheimer's disease: clinical and neurochemical correlates. Int J Alzheimers Dis 2011;495025.
66. Mollenhauer B, Rochester L, Chen-Plotkin A, Brooks D. What can biomarkers tell us about cognition in Parkinson's disease? Mov Disord 2014;29:622-633.