(12) United States Patent (10) Patent No.: US 7,662,389 B2 Clark Et Al
Total Page:16
File Type:pdf, Size:1020Kb
USOO7662389B2 (12) United States Patent (10) Patent No.: US 7,662,389 B2 Clark et al. (45) Date of Patent: Feb. 16, 2010 (54) USE OF SERUM AMYLOIDA GENE IN Cotton et al., Proc. Natl. Acad. Sci. USA 85.4397 (1988): “Reactivity DAGNOSIS AND TREATMENT OF of cytosine and thymine in single-base-pair mismatches with GLAUCOMIA AND IDENTIFICATION OF hydroxylamine and osmium tetroxide and its application to the study ANT-GLAUCOMAAGENTS of mutations'. Cotton, Mutat. Res. 285:125-144 (1993); "Current methods of muta tion detection'. (75) Inventors: Abbot F. Clark, Arlington, TX (US); Croninet al., Human Mutation 7:244-255 (1996); "Cystic Fibrosis Wan-Heng Wang, Grapevine, TX (US); Mutation Detection by Hybridization to Light-Generated DNA Loretta Graves McNatt, Hurst, TX Probe Arrays”. (US) Ermilov et al. (1993); Arkh Patol.; “Senile amyloidosis of the eye as a manifestation of senile cerebral amyloidosis' abstract with article (73) Assignee: Alcon, Inc., Hunenberg (CH) in Russian 55(6):43-45. Furlenato, CJ, and Campa A, Biochem. Biophys. Res. Commun 268:405-408 (2002), “A novel function of serum amyloid A. apotent (*) Notice: Subject to any disclaimer, the term of this stimulus for the release of tumor necrosis factor-alpha, interleukin-1 patent is extended or adjusted under 35 beta, and interleukin-8 by human blood neutrophil”. U.S.C. 154(b) by 130 days. Gasparini et al., Mol. Cell Probes 6:1-7 (1992); "Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless (21) Appl. No.: 11/615.454 detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations'. (22) Filed: Dec. 22, 2006 Gibbs et al., Nucleic Acids Res. 17:2437-2448 (1989); "Detection of single DNA base differences by competitive oligonucleotide prim (65) Prior Publication Data ing. Griffin et al., Appl. Biochem Biotechnol. 38: 147-159 (1993); “DNA US 2007/0208043 A1 Sep. 6, 2007 Sequencing Recent Innovations and Future Trends'. Guatelli, J. C., et al., Proc. Natl. Acad. Sci. USA 87: 1874-1878 Related U.S. Application Data (1990); “Isothermal, in vitro amplification of nucleic acids by a multienzyme reaction modeled after retroviral replication'. (63) Continuation-in-part of application No. 11/000,757, HagiharaKetal, 2004, Biochemical and Biophysical Research Com filed on Dec. 1, 2004, now Pat. No. 7,357,931. munications, “IL-6 plays a critical role in the synergistic induction of human serum Amyloid A (SAA) gene when stimulated with proinflammatory cytokines as analysed with an SAA isoform real (51) Int. Cl. time quantitative RT-PCR assay system”, 314, 363-369. A6 IK 39/00 (2006.01) Hayashi, Genet. Anal. Tech. Appl. 9:73-79 (1992); "PCR-SSCP: A (52) U.S. Cl. ........................................ 424/184.1: 514/2 Method for Detection of Mutations'. (58) Field of Classification Search ........... ... None He, R. Sang H. Ye, RD, Serum Amyloid A induces IL-8 secretion See application file for complete search history. through a G protein-coupled receptor, FPRL1/LXA4R. Blood 101: 1572-1581 (2003). (56) References Cited Hsu et al., Carcinogenesis 15:1657-1662(1994): “Detection of DNA point mutations with DNA mismatch repair enzymes'. U.S. PATENT DOCUMENTS Krasnov et al. (Jan.-Mar. 1996); Vestn Oftalmol. “Morphological features of senile and secondary amyloidosis of the iris and Sclera in 4,656,127 A 4, 1987 Mundy patients with glaucoma' abstract with article will be in Russian 4,998,617 A 3/1991 Ladd, Jr. et al. 12(1):24-6. 5,459,039 A 10, 1995 Modrich et al. Kumon, Y. et al. Acute-phase, but not constitutive serum amyloid A 5,545,628 A 8, 1996 Deboecket al. (SAA) is chemotactic for cultured human aortic Smooth muscle cells, 5,593,826 A 1/1997 Fung et al. AMYLOID 9:237-241 (2002a). 6,433,018 B1 8/2002 Siddiquiet al. Kumon Y. et al., Transcriptional regulation of Serum Amyloid Al 7,357,931 B2 4/2008 Clark et al. gene expression in human aortic Smooth muscle cells involves 2002/0102581 A1 8/2002 Hageman et al. CCAAT/enhancer binding proteins (C/EBP) and is distinct from 2003/0078274 A1* HepG2 cells, Scand. J. Immunol. 56:504-511 (2002b). 4/2003 Lipton ........................ 514,256 Kumon, Y. et al., Dexamethasone, but not IL-1 alone, upregulates acute-phase serum amyloid A gene expression and production by FOREIGN PATENT DOCUMENTS cultured human aortic smooth muscle cells, Scand J. Immunol. 53.7- 12 (2001). EP 1196 167 B 4/2006 FR 2650840 8, 1989 (Continued) WO WO91/02087 A1 2, 1991 WO WO92, 15712 A1 9, 1992 Primary Examiner Anand U Desai WO WO94/16101 A2 T 1994 (74) Attorney, Agent, or Firm Teresa J. Schultz WO WO94/16101 A3 T 1994 (57) ABSTRACT WO WO 2005/060542 A2 7/2005 WO WO 2005/060542 A3 7/2005 The present invention provides compositions and methods for treating glaucoma, methods for diagnosing glaucoma, and OTHER PUBLICATIONS methods for identifying agents which may be useful in the treatment of glaucoma. More specifically, the present inven Barany, Proc. Natl. Acad. Sci. USA 88:189-193 (1991); “Genetic disease detection and DNA amplification using cloned thermostable tion describes the use of agents that modulate the expression ligase'. of serum amyloid A. Bengtsson, “Incidence of manifest glaucoma.” BrJOphthalmol, vol. 73, pp. 483-487 (1989). 2 Claims, 14 Drawing Sheets US 7,662,389 B2 Page 2 OTHER PUBLICATIONS Saiki et al., Proc. Natl. Acad. Sci. USA 86:6230-6234 (1989); "Genetic analysis of amplified DNA with immobilized sequence Kuppuswamy, M. N. et al. Proc. Natl. Acad. Sci. (U.S.A.) 88: 1143 specific oligonucleotide probes'. 1147 (1991); "Single nucleotide primer extension to detect genetic Sanger et al. Proc. Natl. Acad. Sci. USA 74:5463 (1977); “DNA diseases: Experimental application to hemophilia B (factor IX) and sequencing with chain-terminating inhibitors'. cystic fibrosis genes'. Kwoh, D.Y., et al., Proc. Natl. Acad. Sci. USA 86: 1173-1177 (1989); Schwartzetal. (1982); Ophthalmology, 89(4):394-401 Sokolov, B.P. “Transcription-based amplification system and detection of ampli Nucl. Acids Res. 18:3671 (1990); “Primer extension technique for fied human immunodeficiency virus type 1 with a bead-based sand the detection of single nucleotide in genomic DNA”. wich hybridization format”. Sokolov, B.P. Nucl. Acids Res. 18:3671 (1990); “Primer extension Landegren, U. et al., Science 241: 1077:1080 (1988); "A Ligase technique for the detection of single nucleotide in genomic DNA'. Mediated Gene Detection Technique'. Strong, N. P. “How optometrists screen for glaucoma: A Survey', Liang, J.S., Sloane, J.A., Wells, J.M., Abraham, C.R., Fine, R.E., and Ophthal. Physiol. Opt., 12:3-7 (1992). Sipe, J.D., Evidence for local production of acute phase response Syvanen, A. -C., et al., Genomics 8:684-692 (1990); "A Primer apolipoprotein serum amyloid A in Alzheimer's disease brain, Guided Nucleotide Incorporation Assay in the Genotyping of Neurosci. Lett. 225:73-76 (1997). Apollipoprotein E'. Lizardi, P. M. et al., Bio/Technology 6: 1197-1202 (1988): “Expo Thorn, C.F. and Whitehead, A.S. Differential glucocorticoid nential Amplification of Recombinant-RNA Hybridization Probes”. enhancement of the cytokine-driven transcriptional activation of the Maxam and Gilbert, Proc. Natl. Acad. Sci. USA 74:560 (1977); "A human actue phase serum amyloid A genes, SAA1 and SAA. J. new method for sequencing DNA”. Immunol. 169:399-406 (2002). Miida T., Yamada, T., Yamadera, T., Ozaki, K., Inano, K., Okada, M., Tobe et al., Nucleic Acids Res. 24:3728-3732 (1996); "Single-well Serum amyloid A protein generates pre-beta 1 high-density genotyping of diallelic sequence variations by a two-color ELISA lipoprotein from alpha-migrating high-density lipoprotein, Biochem. based oligonucleotide ligation assay'. 38(51): 16958-16962 (1999). Uhlar C et al., 1997. “Use of the acute phase serum anyloid A2 Myers et al., Nature 313:495 (1985a); "Detection of singie base (SAA2) gene promoter in the analysis of pro-and anti-inflammatory Substitutions in total genomic DNA”. mediators: differential kinetics of SAA2 promoter induction by IL-1 Myers et al., Science 230:1242 (1985b); "Detection of Single Base beta and TNF-alpha compared to IL06”, Journal of Immunological Substitutions by Ribonuclease Cleavage at Mismatches in Methods, 203, 123-130, especially Abstract. RNA:DNA Duplexes”. Uhlar, C.M., and Whitehead, A.S. Serum amyloid A, the major Nickerson, D. A. et al., Proc. Natl. Acad. Sci. USA 87:8923-27 vertebrate acute-phase reactant, Eur, J. Biochem. 265:501-523 (1990); "Automated DNA diagnostics using an ELISA-based (1999). oligonucleotide ligation assay. Urleli-Shoval, S., Cohen, P. Eisenberg, S., and Matzner, Y. Wide O'Hara, R., Murphy, E.P. Whitehead, A.S., FitzGerald, O., and spread expression of serum amyloid A in histologically normal Bresnihan, B., Acute-phase serum amyloidA production by rheuma human tissue. Predominant localization to the epithelium, J. toid arthritis synovial tissue, Arthritis Res. 2: 142-148 (2000). Histochem. Cytochem. 46:1377-1384 (1998). Orita et al., Proc. Natl. Acad. Sci. USA86:2766 (1989); "Detection of polymorphisms of human DNA by gel electrophoresis as single van der Luijt et al., Genomics 20:1-4 (1994); "Rapid Detection of Strand conformation polymorphisms’. Translation-Terminating Mutations at the Adenomatous Polyposis PCT International Search Report of a related PCT Application No. Coli (APC) Gene by Direct Protein Truncation Test”. PCT/US04/4.0156, mailed Jul 26, 2006. Vaughan, D. et al., In: General Ophthalmology, Appleton & Lange, Prosser, Tibtech 11:238 (1993): “Detecting single-base mutations”. Norwalk, Conn., pp. 213-230 (1992). Roest et al., Hum. Mol. Genet. 2:1717-1721 (1993); “Protein trun Written Opinion of the International Searching Authority of a related cation test (PTT) for rapid detection of translation-terminating muta PCT Application No.