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Title:
DIAGNOSIS MARKER, DIAGNOSIS METHOD AND THERAPEUTIC AGENT FOR AMYOTROPHIC LATERAL SCLEROSIS, AND ANIMAL MODEL AND CELL MODEL DEVELOPING AMYOTROPHIC LATERAL SCLEROSIS
Document Type and Number:
WIPO Patent Application WO/2011/024822
Kind Code:
A1
Abstract:
Provided are a diagnosis marker, a diagnosis method, and a therapeutic agent suitable for diagnosing and treating amyotrophic lateral sclerosis (ALS). Also provided are an animal model and a cell model suitable for developing a therapeutic agent and a treatment method for ALS. The diagnosis method for ALS includes: an isolation step in which a nucleic acid is isolated from a specimen taken from a subject; a detection step in which bases expressed in a human chromosome 10 optineurin (OPTN) gene region are detected from the isolated nucleic acid; and a determination step in which it is determined whether or not the detected bases are mutated.

Inventors:
KAWAKAMI HIDESHI (JP)
MARUYAMA HIROFUMI (JP)
MORINO HIROYUKI (JP)
Application Number:
PCT/JP2010/064313
Publication Date:
March 03, 2011
Filing Date:
August 24, 2010
Export Citation:
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Assignee:
UNIV HIROSHIMA (JP)
KAWAKAMI HIDESHI (JP)
MARUYAMA HIROFUMI (JP)
MORINO HIROYUKI (JP)
International Classes:
C12N15/09; A01K67/027; A61K45/00; A61P21/00; A61P25/00; A61P43/00; C12N5/10; C12N15/01; C12Q1/68
Foreign References:
JP2009194864A2009-08-27
JP2010058294A2010-03-18
Other References:
MARUYAMA H. ET AL.: "Mutations of optineurin in amyotrophic lateral sclerosis", NATURE, vol. 465, no. 7295, 13 May 2010 (2010-05-13), pages 223 - 226, XP008153948
DRACHMAN D.B. ET AL.: "Cyclooxygenase 2 inhibition protects motor neurons and prolongs survival in a transgenic mouse model of ALS", ANN. NEUROL., vol. 52, no. 6, December 2002 (2002-12-01), pages 771 - 778, XP008153940
KIAEI M. ET AL.: "Thalidomide and lenalidomide extend survival in a transgenic mouse model of amyotrophic lateral sclerosis", J. NEUROSCI., vol. 26, no. 9, 1 March 2006 (2006-03-01), pages 2467 - 2473, XP008153944
GREENWAY M.J. ET AL.: "ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis", NAT. GENET., vol. 38, no. 4, April 2006 (2006-04-01), pages 411 - 413, XP008153956
ROSEN D.R. ET AL.: "Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis", NATURE, vol. 362, no. 6415, 4 March 1993 (1993-03-04), pages 59 - 62, XP008153951
SREEDHARAN J. ET AL.: "TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis", SCIENCE, vol. 319, no. 5870, 21 March 2008 (2008-03-21), pages 1668 - 1672, XP008153967
KWIATKOWSKI T.J. JR. ET AL.: "Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis", SCIENCE, vol. 323, no. 5918, 27 February 2009 (2009-02-27), pages 1205 - 1208, XP008153947
VANCE C. ET AL.: "Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6", SCIENCE, vol. 323, no. 5918, 27 February 2009 (2009-02-27), pages 1208 - 1211, XP008153960
REZAIE T. ET AL.: "Adult-onset primary open- angle glaucoma caused by mutations in optineurin", SCIENCE, vol. 295, no. 5557, 8 February 2002 (2002-02-08), pages 1077 - 1079, XP008153975
SHISHODIA S. ET AL.: "Cyclooxygenase (COX)-2 inhibitor celecoxib abrogates TNF-induced NF-KB activation through inhibition of activation of IxBa kinase and Akt in human non-small cell lung carcinoma: correlation with suppression of COX-2 synthesis", J. IMMUNOL., vol. 173, no. 3, 1 August 2004 (2004-08-01), pages 2011 - 2022, XP008153067
FUNAKOSHI-TAGO M. ET AL.: "Celecoxib potently inhibits TNFa-induced nuclear translocation and activation of NF-KB", BIOCHEM. PHARMACOL., vol. 76, no. 5, 1 September 2008 (2008-09-01), pages 662 - 671, XP008154920
KEIFER J.A. ET AL.: "Inhibition of NF-KB activity by thalidomide through suppression of IKB kinase activity", J. BIOL. CHEM., vol. 276, no. 25, 22 June 2001 (2001-06-22), pages 22382 - 22387, XP008153968
"The FUS about TDP-43", CELL, vol. 136, 20 March 2009 (2009-03-20)
See also references of EP 2471916A4
Attorney, Agent or Firm:
KIMURA MITSURU (JP)
Mitsuru Kimura (JP)
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