Quantification assays for total and polyglutamine-expanded huntingtin proteins

PLoS ONE

Volumn 9, Issue 5, 2014, Pages

  Macdonald, Douglas ^a   Tessari, Michela A ^b   Boogaard, Ivette ^c   Smith, Melanie ^c   Pulli, Kristiina ^b   Szynol, Agnieszka ^c   Albertus, Faywell ^c   Lamers, Marieke B A C ^c   Dijkstra, Sipke ^c   Kordt, Daniel ^d   Reindl, Wolfgang ^d   Herrmann, Frank ^d   McAllister, George ^c   Fischer, David F ^c   Munoz Sanjuan, Ignacio ^a  

^a CHDI MANAGEMENT CHDI FOUNDATION   (United States)

^b Galapagos BV   (Netherlands)

^c BioFocus DPI   (United Kingdom)

^d EVOTEC AG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HUNTINGTIN; POLYGLUTAMINE; RECOMBINANT PROTEIN; ANTIBODY; HDH PROTEIN, RAT; HTT PROTEIN, HUMAN; HUNTINGTON PROTEIN, MOUSE; NERVE PROTEIN; NUCLEAR PROTEIN; PEPTIDE;

ADULT; AGED; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ELECTROCHEMILUMINESCENCE ASSAY; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; HUMAN; HUMAN CELL; HUMAN TISSUE; HUNTINGTON CHOREA; IMMUNOASSAY; IN VITRO STUDY; IN VIVO STUDY; MALE; MIDDLE AGED; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PROCESS DEVELOPMENT; QUANTITATIVE ANALYSIS; SF9 CELL LINE; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; BIOASSAY; BRAIN; CELL LINE; CHEMISTRY; IMMUNOLOGY; LUMINESCENCE; METABOLISM; MOLECULAR GENETICS; PROCEDURES; RAT; SOLUBILITY;

AMINO ACID SEQUENCE; ANIMALS; ANTIBODIES; BIOLOGICAL ASSAY; BRAIN; CELL LINE; FEMALE; HUMANS; LUMINESCENT MEASUREMENTS; MALE; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PEPTIDES; RATS; SOLUBILITY;

EID: 84901217827     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0096854     Document Type: Article

References (42)

1. The Huntington's Disease Collaborative Research Group (1993) A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72: 971-983.
2. Sharp AH, Loev SJ, Schilling G, Li SH, Li XJ, et al. (1995) Widespread expression of Huntington's disease gene (IT15) protein product. Neuron 14: 1065-1074.
3. Tabrizi SJ, Langbehn DR, Leavitt BR, Roos RA, Durr A, et al. (2009) Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 8: 791-801.
4. Carroll JB, Warby SC, Southwell AL, Doty CN, Greenlee S, et al. (2011) Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the huntington disease gene/allele-specific silencing of mutant huntingtin. Mol Ther 19: 2178-2185.
5. McBride JL, Pitzer MR, Boudreau RL, Dufour B, Hobbs T, et al. (2011) Preclinical Safety of RNAi-Mediated HTT Suppression in the Rhesus Macaque as a Potential Therapy for Huntington's Disease. Mol Ther 19: 2152-2162.
6. Sah DW, Aronin N (2011) Oligonucleotide therapeutic approaches for Huntington disease. J Clin Invest 121: 500-507.
7. Hu J, Matsui M, Gagnon KT, Schwartz JC, Gabillet S, et al. (2009) Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs. Nat Biotechnol 27: 478-484.
8. Harper SQ, Staber PD, He X, Eliason SL, Martins IH, et al. (2005) RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A 102: 5820-5825. (Pubitemid 40559643)
9. DiFiglia M, Sena-Esteves M, Chase K, Sapp E, Pfister E, et al. (2007) Therapeutic silencing of mutant huntingtin with siRNA attenuates striatal and cortical neuropathology and behavioral deficits. Proc Natl Acad Sci U S A 104: 17204-17209. (Pubitemid 350211015)
10. Kordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, et al. (2012) Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis. Neuron 74: 1031-1044.
11. Stanek LM, Yang W, Angus S, Sardi PS, Hayden MR, et al. (2013) Antisense Oligonucleotide-Mediated Correction of Transcriptional Dysregulation is Correlated with Behavioral Benefits in the YAC128 Mouse Model of Huntington's Disease. J Huntington's Disease 2: 217-228.
12. DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, et al. (1997) Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 277: 1990-1993. (Pubitemid 27449140)
13. Miller J, Arrasate M, Brooks E, Libeu CP, Legleiter J, et al. (2011) Identifying polyglutamine protein species in situ that best predict neurodegeneration. Nat Chem Biol 7: 925-934.
14. Pyati R, Richter MM (2007) ECL-Electrochemical luminescence. Annu Rep Prog Chem, Sect C 103: 12-78.
15. Fu Q, Zhu J, Van Eyk JE (2010) Comparison of multiplex immunoassay platforms. Clin Chem 56: 314-318.
16. Weiss A, Abramowski D, Bibel M, Bodner R, Chopra V, et al. (2009) Single-step detection of mutant huntingtin in animal and human tissues: A bioassay for Huntington's disease. Anal Biochem 395: 8-15.
17. Paganetti P, Weiss A, Trapp M, Hammerl I, Bleckmann D, et al. (2009) Development of a method for the high-throughput quantification of cellular proteins. Chembiochem 10: 1678-1688.
18. Sathasivam K, Lane A, Legleiter J, Warley A, Woodman B, et al. (2010) Identical oligomeric and fibrillar structures captured from the brains of R6/2 and knock-in mouse models of Huntington's disease. Hum Mol Genet 19: 65-78.
19. Davies SW, Sathasivam K, Hobbs C, Doherty P, Mangiarini L, et al. (1999) Detection of polyglutamine aggregation in mouse models. Methods Enzymol 309: 687-701. (Pubitemid 29446480)
20. Ko J, Ou S, Patterson PH (2001) New anti-huntingtin monoclonal antibodies: implications for huntingtin conformation and its binding proteins. Brain Res Bull 56: 319-329. (Pubitemid 33062356)
21. Duzdevich D, Li J, Whang J, Takahashi H, Takeyasu K, et al. (2011) Unusual Structures Are Present in DNA Fragments Containing Super-Long Huntingtin CAG Repeats. PLoS ONE 6: e17119.
22. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, et al. (1996) Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 87: 493-506. (Pubitemid 26374323)
23. Gray M, Shirasaki DI, Cepeda C, Andre VM, Wilburn B, et al. (2008) Full-length human mutant huntingtin with a stable polyglutamine repeat can elicit progressive and selective neuropathogenesis in BACHD mice. J Neurosci 28: 6182-6195.
24. Menalled LB, Sison JD, Dragatsis I, Zeitlin S, Chesselet MF (2003) Time course of early motor and neuropathological anomalies in a knock-in mouse model of Huntington's disease with 140 CAG repeats. J Comp Neurol 465: 11-26. (Pubitemid 37075677)
25. Heikkinen T, Lehtimaki K, Vartiainen N, Puolivali J, Hendricks SJ, et al. (2012) Characterization of neurophysiological and behavioral changes, MRI brain volumetry and 1H MRS in zQ175 knock-in mouse model of Huntington's disease. PLoS One 7: e50717.
26. Menalled LB, Kudwa AE, Miller S, Fitzpatrick J, Watson-Johnson J, et al. (2012) Comprehensive behavioral and molecular characterization of a new knock-in mouse model of Huntington's disease: zQ175. PLoS One 7: e49838.
27. Kügler S, Lingor P, Scholl U, Zolotukhin S, Bahr M (2003) Differential transgene expression in brain cells in vivo and in vitro from AAV-2 vectors with small transcriptional control units. Virology 311: 89-95. (Pubitemid 36794213)
28. McBride JL, Boudreau RL, Harper SQ, Staber PD, Monteys AM, et al. (2008) Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: implications for the therapeutic development of RNAi. Proc Natl Acad Sci U S A 105: 5868-5873. (Pubitemid 351758464)
29. Huang B, Schiefer J, Sass C, Kosinski CM, Kochanek S (2008) Inducing huntingtin inclusion formation in primary neuronal cell culture and in vivo by high-capacity adenoviral vectors expressing truncated and full-length huntingtin with polyglutamine expansion. J Gene Med 10: 269-279. (Pubitemid 351359639)
30. Cong SY, Pepers BA, Roos RA, Van Ommen GJ, Dorsman JC (2005) Epitope mapping of monoclonal antibody 4C8 recognizing the protein huntingtin. Hybridoma (Larchmt) 24: 231-235. (Pubitemid 41507762)
31. Bates G (2003) Huntingtin aggregation and toxicity in Huntington's disease. Lancet 361: 1642-1644.
32. Li P, Huey-Tubman KE, Gao T, Li X, West AP Jr, et al. (2007) The structure of a polyQ-anti-polyQ complex reveals binding according to a linear lattice model. Nat Struct Mol Biol 14: 381-387. (Pubitemid 46685884)
33. Baldo B, Paganetti P, Grueninger S, Marcellin D, Kaltenbach LS, et al. (2012) TR-FRET-Based Duplex Immunoassay Reveals an Inverse Correlation of Soluble and Aggregated Mutant huntingtin in Huntington's Disease. Chem Biol 19: 264-275.
34. Scherzinger E, Sittler A, Schweiger K, Heiser V, Lurz R, et al. (1999) Self-assembly of polyglutamine-containing huntingtin fragments into amyloid-like fibrils: Implications for Huntington's disease pathology. Proc Natl Acad Sci USA 96: 4604-4609. (Pubitemid 29190383)
35. Weiss A, Trager U, Wild EJ, Grueninger S, Farmer R, et al. (2012) Mutant huntingtin fragmentation in immune cells tracks Huntington's disease progression. J Clin Invest 122: 3731-3736.
36. Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, et al. (2013) Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A 110: 2366-2370.
37. Graham RK, Deng Y, Slow EJ, Haigh B, Bissada N, et al. (2006) Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin. Cell 125: 1179-1191. (Pubitemid 43866195)
38. Pardo R, Colin E, Regulier E, Aebischer P, Deglon N, et al. (2006) Inhibition of calcineurin by FK506 protects against polyglutamine-huntingtin toxicity through an increase of huntingtin phosphorylation at S421. J Neurosci 26: 1635-1645. (Pubitemid 43237034)
39. Steffan JS, Agrawal N, Pallos J, Rockabrand E, Trotman LC, et al. (2004) SUMO modification of Huntingtin and Huntington's disease pathology. Science 304: 100-104. (Pubitemid 38451465)
40. Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, et al. (1996) Huntingtin is ubiquitinated and interacts with a specific ubiquitin- conjugating enzyme. J Biol Chem 271: 19385-19394. (Pubitemid 26271610)
41. Jeong H, Then F, Melia TJ Jr, Mazzulli JR, Cui L, et al. (2009) Acetylation targets mutant huntingtin to autophagosomes for degradation. Cell 137: 60-72.
42. Zhao Y, Chapman DA, Jones IM (2003) Improving baculovirus recombination. Nucleic Acids Res. 31(2):E6-6.