Title:
DISEASE STATE ASSESSMENT KIT FOR RETT SYNDROME AND USE OF GENE CONTAINED IN MITOCHONDRIAL GENOME AS BIOMARKER
Document Type and Number:
WIPO Patent Application WO/2023/214557
Kind Code:
A1
Abstract:
This disease state assessment kit for Rett syndrome comprises a reagent for detecting a gene contained in the mitochondrial genome in a sample collected from a subject.
Inventors:
FUJINO TAKEHIKO (JP)
MAWATARI SHIRO (JP)
HONSHO MASANORI (JP)
MAWATARI SHIRO (JP)
HONSHO MASANORI (JP)
Application Number:
PCT/JP2023/017009
Publication Date:
November 09, 2023
Filing Date:
May 01, 2023
Export Citation:
Assignee:
INST OF RHEOLOGICAL FUNCTION OF FOOD CO LTD (JP)
UNIV KYUSHU NAT UNIV CORP (JP)
UNIV KYUSHU NAT UNIV CORP (JP)
International Classes:
C12N15/11; C12Q1/6813; C12Q1/686; C12Q1/6883
Other References:
LIU SIWEN, PEI PEI, LI LIN, WU HAIRONG, ZHENG XUEFEI, WANG SONGTAO, XIAO YANG, PAN HONG, BAO XINHUA, QI YU, MA YINAN: "Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2 Variants", JOURNAL OF PEDIATRICS., MOSBY-YEAR BOOK, ST. LOUIS, MO, US, vol. 241, 1 February 2022 (2022-02-01), US , pages 154 - 161, XP093106214, ISSN: 0022-3476, DOI: 10.1016/j.jpeds.2021.09.052
TANG JU; QI YU; BAO XIN-HUA; WU XI-RU: "Mutational analysis of mitochondrial DNA of children with Rett syndrome", PEDIATRIC NEUROLOGY, ELSEVIER SCIENCE., NL, vol. 17, no. 4, 1 November 1997 (1997-11-01), NL , pages 327 - 330, XP085928102, ISSN: 0887-8994, DOI: 10.1016/S0887-8994(97)00151-3
GOLD W.A.; WILLIAMSON S.L.; KAUR S.; HARGREAVES I.P.; LAND J.M.; PELKA G.J.; TAM P.P.L.; CHRISTODOULOU J.: "Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype", MITOCHONDRION, ELSEVIER, AMSTERDAM, NL, vol. 15, 1 January 1900 (1900-01-01), NL , pages 10 - 17, XP028660407, ISSN: 1567-7249, DOI: 10.1016/j.mito.2014.02.012
VASHI NEETI, ACKERLEY CAMERON, POST MARTIN, JUSTICE MONICA J: "Aberrant lung lipids cause respiratory impairment in a Mecp2 -deficient mouse model of Rett syndrome", HUMAN MOLECULAR GENETICS, OXFORD UNIVERSITY PRESS, GB, vol. 30, no. 22, 1 November 2021 (2021-11-01), GB , pages 2161 - 2176, XP093106217, ISSN: 0964-6906, DOI: 10.1093/hmg/ddab182
GIBSON JOANNE H; SLOBEDMAN BARRY; KN HARIKRISHNAN; WILLIAMSON SARAH L; MINCHENKO DIMITRI; EL-OSTA ASSAM; STERN JOSHUA L; CHRISTODO: "Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain", BMC NEUROSCIENCE, BIOMED CENTRAL, LONDON, GB, vol. 11, no. 1, 26 April 2010 (2010-04-26), GB , pages 53, XP021073301, ISSN: 1471-2202, DOI: 10.1186/1471-2202-11-53
TANG JU; QI YU; BAO XIN-HUA; WU XI-RU: "Mutational analysis of mitochondrial DNA of children with Rett syndrome", PEDIATRIC NEUROLOGY, ELSEVIER SCIENCE., NL, vol. 17, no. 4, 1 November 1997 (1997-11-01), NL , pages 327 - 330, XP085928102, ISSN: 0887-8994, DOI: 10.1016/S0887-8994(97)00151-3
GOLD W.A.; WILLIAMSON S.L.; KAUR S.; HARGREAVES I.P.; LAND J.M.; PELKA G.J.; TAM P.P.L.; CHRISTODOULOU J.: "Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): Implications for the disease phenotype", MITOCHONDRION, ELSEVIER, AMSTERDAM, NL, vol. 15, 1 January 1900 (1900-01-01), NL , pages 10 - 17, XP028660407, ISSN: 1567-7249, DOI: 10.1016/j.mito.2014.02.012
VASHI NEETI, ACKERLEY CAMERON, POST MARTIN, JUSTICE MONICA J: "Aberrant lung lipids cause respiratory impairment in a Mecp2 -deficient mouse model of Rett syndrome", HUMAN MOLECULAR GENETICS, OXFORD UNIVERSITY PRESS, GB, vol. 30, no. 22, 1 November 2021 (2021-11-01), GB , pages 2161 - 2176, XP093106217, ISSN: 0964-6906, DOI: 10.1093/hmg/ddab182
GIBSON JOANNE H; SLOBEDMAN BARRY; KN HARIKRISHNAN; WILLIAMSON SARAH L; MINCHENKO DIMITRI; EL-OSTA ASSAM; STERN JOSHUA L; CHRISTODO: "Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain", BMC NEUROSCIENCE, BIOMED CENTRAL, LONDON, GB, vol. 11, no. 1, 26 April 2010 (2010-04-26), GB , pages 53, XP021073301, ISSN: 1471-2202, DOI: 10.1186/1471-2202-11-53
Attorney, Agent or Firm:
KIMURA Mitsuru (JP)
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