Huntington's disease cerebrospinal fluid seeds aggregation of mutant huntingtin

Molecular Psychiatry

Volumn 20, Issue 11, 2015, Pages 1286-1293

  Tan, Z ^a   Dai, W ^b   Van Erp, T G M ^a   Overman, J ^a   Demuro, A ^a   Digman, M A ^c   Hatami, A ^d,g   Albay, R ^d   Sontag, E M ^a,i   Potkin, K T ^a   Ling, S ^a   Macciardi, F ^a   Bunney, W E ^a   Long, J D ^e,f   Paulsen, J S ^e   Ringman, J M ^g   Parker, I ^a   Glabe, C ^a,d,h   Thompson, L M ^a   Chiu, W ^b   Potkin, S G ^a   more..

^a UNIVERSITY OF CALIFORNIA   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c University of California at Irvine   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF IOWA   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

ⁱ STANFORD UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN; OLIGOMER; POLYGLUTAMINE; HTT PROTEIN, HUMAN; NERVE PROTEIN; PEPTIDE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ASSAY; AUTOPSY; CELL LYSATE; CEREBROSPINAL FLUID; CONTROLLED STUDY; CRYOELECTRON MICROSCOPY; HUMAN; HUNTINGTON CHOREA; MUTANT; NONHUMAN; PRION; PRIORITY JOURNAL; PROTEIN AGGREGATION; RAT; TRANSGENIC RAT; ANIMAL; CELL CULTURE; ELECTRON MICROSCOPY; FEMALE; GENETIC TRANSFECTION; GENETICS; MALE; MUTATION; PATHOLOGY; PROTEINOSIS;

ANIMALS; CELLS, CULTURED; FEMALE; HUMANS; HUNTINGTIN PROTEIN; HUNTINGTON DISEASE; MALE; MICROSCOPY, ELECTRON; MUTATION; NERVE TISSUE PROTEINS; PEPTIDES; PROTEIN AGGREGATION, PATHOLOGICAL; RATS; RATS, TRANSGENIC; TRANSFECTION;

EID: 84946492417     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2015.81     Document Type: Article

References (41)

1. Lee JM, Ramos EM, Lee JH, Gillis T, Mysore JS, Hayden MR et al. CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology 2012; 78: 690-695.
2. Walker FO. Huntington's disease. Lancet 2007; 369: 218-228.
3. Hatters DM. Putting huntingtin "aggregation" in view with windows into the cellular milieu. Curr Top Med Chem 2012; 12: 2611-2622.
4. Li SH, Li XJ. Aggregation of N-terminal huntingtin is dependent on the length of its glutamine repeats. Hum Mol Genet 1998; 7: 777-782.
5. Scherzinger E, Sittler A, Schweiger K, Heiser V, Lurz R, Hasenbank R et al. Self-assembly of polyglutamine-containing huntingtin fragments into amyloidlike fibrils: implications for Huntington's disease pathology. Proc Natl Acad Sci USA 1999; 96: 4604-4609.
6. Legleiter J, Mitchell E, Lotz GP, Sapp E, Ng C, DiFiglia M et al. Mutant huntingtin fragments form oligomers in a polyglutamine length-dependent manner in vitro and in vivo. J Biol Chem 2010; 285: 14777-14790.
7. Tsvetkov AS, Arrasate M, Barmada S, Ando DM, Sharma P, Shaby BA et al. Proteostasis of polyglutamine varies among neurons and predicts neurodegeneration. Nat Chem Biol 2013; 9: 586-592.
8. Shao J, Diamond MI. Polyglutamine diseases: emerging concepts in pathogenesis and therapy. Hum Mol Genet 2007; 16: R115-R123.
9. Ren PH, Lauckner JE, Kachirskaia I, Heuser JE, Melki R, Kopito RR. Cytoplasmic penetration and persistent infection of mammalian cells by polyglutamine aggregates. Nat Cell Biol 2009; 11: 219-225.
10. Yang W, Dunlap JR, Andrews RB, Wetzel R. Aggregated polyglutamine peptides delivered to nuclei are toxic to mammalian cells. Hum Mol Genet 2002; 11: 2905-2917.
11. Apostol BL, Kazantsev A, Raffioni S, Illes K, Pallos J, Bodai L et al. A cell-based assay for aggregation inhibitors as therapeutics of polyglutamine-repeat disease and validation in Drosophila. Proc Natl Acad Sci USA 2003; 100: 5950-5955.
12. Chen S, Wetzel R. Solubilization and disaggregation of polyglutamine peptides. Protein Sci 2001; 10: 887-891.
13. Wanker EE, Scherzinger E, Heiser V, Sittler A, Eickhoff H, Lehrach H. Membrane filter assay for detection of amyloid-like polyglutamine-containing protein aggregates. Methods Enzymol 1999; 309: 375-386.
14. Sontag EM, Joachimiak LA, Tan Z, Tomlinson A, Housman DE, Glabe CG et al. Exogenous delivery of chaperonin subunit fragment ApiCCT1 modulates mutant Huntingtin cellular phenotypes. Proc Natl Acad Sci USA 2013; 110: 3077-3082.
15. Sontag EM, Lotz GP, Yang G, Sontag CJ, Cummings BJ, Glabe CG et al. Detection of mutant huntingtin aggregation conformers and modulation of SDS-soluble fibrillar oligomers by small molecules. J Huntingtons Dis 2012; 1: 127-140.
16. Laird NM, Ware JH. Random-effects models for longitudinal data. Biometrics 1982; 38: 963-974.
17. Kenward MG, Roger JH. Small sample inference for fixed effects from restricted maximum likelihood. Biometrics 1997; 53: 983-997.
18. Ono K, Takahashi R, Ikeda T, Yamada M. Cross-seeding effects of amyloid beta-protein and alpha-synuclein. J Neurochem 2012; 122: 883-890.
19. Guo JL, Covell DJ, Daniels JP, Iba M, Stieber A, Zhang B et al. Distinct alpha-synuclein strains differentially promote tau inclusions in neurons. Cell 2013; 154: 103-117.
20. Hinz J, Gierasch LM, Ignatova Z. Orthogonal cross-seeding: an approach to explore protein aggregates in living cells. Biochemistry 2008; 47: 4196-4200.
21. Miller Y, Ma B, Tsai CJ, Nussinov R. Hollow core of Alzheimer's Abeta42 amyloid observed by cryoEM is relevant at physiological pH. Proc Natl Acad Sci USA 2010; 107: 14128-14133.
22. Zhang R, Hu X, Khant H, Ludtke SJ, Chiu W, Schmid MF et al. Interprotofilament interactions between Alzheimer's Abeta1-42 peptides in amyloid fibrils revealed by cryoEM. Proc Natl Acad Sci USA 2009; 106: 4653-4658.
23. Yu-Taeger L, Petrasch-Parwez E, Osmand AP, Redensek A, Metzger S, Clemens LE et al. A novel BACHD transgenic rat exhibits characteristic neuropathological features of Huntington disease. J Neurosci 2012; 32: 15426-15438.
24. Paulsen JS, Long JD, Johnson HJ, Aylward EH, Ross CA, Williams JK et al. Clinical and biomarker changes in premanifest huntington disease show trial feasibility: A decade of the PREDICT-HD Study. Front Aging Neurosci 2014; 6: 78.
25. Zhang Y, Long JD, Mills JA, Warner JH, Lu W, Paulsen JS. Indexing disease progression at study entry with individuals at-risk for Huntington disease. Am J Med Genet B Neuropsychiatr Genet 2011; 156B: 751-763.
26. Wild EJ, Boggio R, Langbehn D, Robertson N, Haider S, Miller JR et al. Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington's disease patients. J Clin Invest 2015; 125: 1976-1986.
27. Holmes BB, Diamond MI. Prion-like properties of tau protein: The importance of extracellular tau as a therapeutic target. J Biol Chem 2014; 289: 19855-19861.
28. Masuda-Suzukake M, Nonaka T, Hosokawa M, Oikawa T, Arai T, Akiyama H et al. Prion-like spreading of pathological alpha-synuclein in brain. Brain 2013; 136: 1128-1138.
29. Stohr J, Watts JC, Mensinger ZL, Oehler A, Grillo SK, DeArmond SJ et al. Purified and synthetic Alzheimer's amyloid beta (Abeta) prions. Proc Natl Acad Sci USA 2012; 109: 11025-11030.
30. Jucker M, Walker LC. Self-propagation of pathogenic protein aggregates in neurodegenerative diseases. Nature 2013; 501: 45-51.
31. Sierks MR, Chatterjee G, McGraw C, Kasturirangan S, Schulz P, Prasad S. CSF levels of oligomeric alpha-synuclein and beta-amyloid as biomarkers for neurodegenerative disease. Integr Biol 2011; 3: 1188-1196.
32. Holtta M, Hansson O, Andreasson U, Hertze J, Minthon L, Nagga K et al. Evaluating amyloid-beta oligomers in cerebrospinal fluid as a biomarker for Alzheimer's disease. PLoS One 2013; 8: e66381.
33. Tokuda T, Qureshi MM, Ardah MT, Varghese S, Shehab SA, Kasai T et al. Detection of elevated levels of alpha-synuclein oligomers in CSF from patients with Parkinson disease. Neurology 2010; 75: 1766-1772.
34. Fukumoto H, Tokuda T, Kasai T, Ishigami N, Hidaka H, Kondo M et al. High-molecular-weight beta-amyloid oligomers are elevated in cerebrospinal fluid of Alzheimer patients. FASEB J 2010; 24: 2716-2726.
35. Herrera F, Tenreiro S, Miller-Fleming L, Outeiro TF. Visualization of cell-to-cell transmission of mutant huntingtin oligomers. PLoS Curr 2011; 3: RRN1210.
36. Pecho-Vrieseling E, Rieker C, Fuchs S, Bleckmann D, Esposito MS, Botta P et al. Transneuronal propagation of mutant huntingtin contributes to non-cell autonomous pathology in neurons. Nat Neurosci 2014; 17: 1064-1072.
37. Cicchetti F, Lacroix S, Cisbani G, Vallieres N, Saint-Pierre M, St-Amour I et al. Mutant huntingtin is present in neuronal grafts in huntington disease patients. Ann Neurol 2014; 76: 31-42.
38. Meyer-Luehmann M, Coomaraswamy J, Bolmont T, Kaeser S, Schaefer C, Kilger E et al. Exogenous induction of cerebral beta-amyloidogenesis is governed by agent and host. Science 2006; 313: 1781-1784.
39. Bjorkqvist M, Wild EJ, Thiele J, Silvestroni A, Andre R, Lahiri N et al. A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J Exp Med 2008; 205: 1869-1877.
40. Paulsen JS, Langbehn DR, Stout JC, Aylward E, Ross CA, Nance M et al. Detection of Huntington's disease decades before diagnosis: The Predict-HD study. J Neurol Neurosurg Psychiatry 2008; 79: 874-880.
41. Bateman RJ, Xiong C, Benzinger TL, Fagan AM, Goate A, Fox NC et al. Clinical and biomarker changes in dominantly inherited Alzheimer's disease. N Engl J Med 2012; 367: 795-804.