Title:
METHOD FOR TESTING RISK OF MULTIPLE SYSTEM ATROPHY, TEST KIT, AND DRUG FOR THE TREATMENT OR PREVENTION OF MULTIPLE SYSTEM ATROPHY
Document Type and Number:
WIPO Patent Application WO/2014/123151
Kind Code:
A1
Abstract:
The purpose of the invention is to elucidate the mechanism of onset of MSA through identifying a causative gene, and then to discover a treatment method. The invention provides a method for testing the risk of multiple system atrophy of a subject, wherein the method includes a step for detecting a mutation that decreases the biosynthesis of coenzyme Q10 in a sample collected from the subject. Examples of mutations that decrease the biosynthesis of coenzyme Q10 include mutations that suppress the expression or function of coenzyme Q2.
Inventors:
TSUJI SHOJI (JP)
MITSUI JUN (JP)
MITSUI JUN (JP)
Application Number:
PCT/JP2014/052658
Publication Date:
August 14, 2014
Filing Date:
February 05, 2014
Export Citation:
Assignee:
UNIV TOKYO (JP)
International Classes:
A61K31/122; C12N15/09; A61P25/00; A61P25/16; C12Q1/02; C12Q1/68; G01N33/15; G01N33/50
Foreign References:
| JP2007528367A | 2007-10-11 |
Other References:
DATABASE DDBJ/EMBL/ GENBANK 28 November 2012 (2012-11-28), "4-hydroxybenzoate polyprenyltransferase, mitochondrial.", accession no. 96H96
YASUO NAKAHARA ET AL.: "Genome Wide Kanren Kaiseki ni Motozuku Takeito Ishukusho (MSA) no Shikkan Kanjusei Idenshi no Tansaku", CLINICAL NEUROLOGY, vol. 50, no. 12, December 2010 (2010-12-01), pages 1155
QUINZII, C. ET AL.: "A mutation in para- hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.", AM. J. HUM. GENET., vol. 78, February 2006 (2006-02-01), pages 345 - 349
LOPEZ-MARTIN, J.M. ET AL.: "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.", HUM. MOL. GENET., vol. 16, no. 9, 2007, pages 1091 - 1097
DIOMEDI-CAMASSEI, F. ET AL.: "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.", J. AM. SOC. NEPHROL., vol. 18, 2007, pages 2773 - 2780
"The Multiple-System Atrophy Research Collaboration., Mutations in COQ2 in familial and sporadic multiple-system atrophy.", N. ENGL. J. MED., vol. 369, no. 3, 18 July 2013 (2013-07-18), pages 233 - 244
YASUO NAKAHARA ET AL.: "Genome Wide Kanren Kaiseki ni Motozuku Takeito Ishukusho (MSA) no Shikkan Kanjusei Idenshi no Tansaku", CLINICAL NEUROLOGY, vol. 50, no. 12, December 2010 (2010-12-01), pages 1155
QUINZII, C. ET AL.: "A mutation in para- hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.", AM. J. HUM. GENET., vol. 78, February 2006 (2006-02-01), pages 345 - 349
LOPEZ-MARTIN, J.M. ET AL.: "Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.", HUM. MOL. GENET., vol. 16, no. 9, 2007, pages 1091 - 1097
DIOMEDI-CAMASSEI, F. ET AL.: "COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.", J. AM. SOC. NEPHROL., vol. 18, 2007, pages 2773 - 2780
"The Multiple-System Atrophy Research Collaboration., Mutations in COQ2 in familial and sporadic multiple-system atrophy.", N. ENGL. J. MED., vol. 369, no. 3, 18 July 2013 (2013-07-18), pages 233 - 244
Attorney, Agent or Firm:
INABA, Yoshiyuki et al. (JP)
Yoshiyuki Inaba (JP)
Yoshiyuki Inaba (JP)
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