Title:
KIT INCLUDING PRIMER DNA SET FOR DETECTING MITOCHONDRIAL RIBOSOMAL RNA MUTATION, NUCLEIC ACID FOR EXPRESSING MITOCHONDRIAL RIBOSOMAL RNA, LIPID MEMBRANE STRUCTURE OBTAINED BY ENCAPSULATING THE NUCLEIC ACID, AND USES OF THESE
Document Type and Number:
WIPO Patent Application WO/2020/230601
Kind Code:
A1
Abstract:
The present invention relates to a kit for detecting a point mutation of mitochondrial DNA or a corresponding point mutation of mitochondrial ribosomal RNA including a primer DNA set for wild type detection and a primer DNA set for mutant type detection, a mitochondria-targeted lipid membrane structure obtained by encapsulating a nucleic acid including a base sequence of mitochondrial ribosomal RNA or a base sequence complementary thereto, a pharmaceutical composition containing said nucleic acid as an active ingredient, and a method for producing a cell formulation for treating and/or preventing mitochondrial disease that includes introducing said nucleic acid in vitro into cells derived from a mitochondrial disease patient or a person at risk for developing mitochondrial disease.
Inventors:
YAMADA YUMA (JP)
HARASHIMA HIDEYOSHI (JP)
MARUYAMA MINAKO (JP)
HARASHIMA HIDEYOSHI (JP)
MARUYAMA MINAKO (JP)
Application Number:
PCT/JP2020/017906
Publication Date:
November 19, 2020
Filing Date:
April 27, 2020
Export Citation:
Assignee:
LUCA SCIENCE INC (JP)
International Classes:
A61K48/00; A61K9/127; A61K31/7088; A61K47/24; A61K47/42; A61K47/69; A61P43/00; C12N15/88; C12Q1/6886; G01N33/53
Domestic Patent References:
| WO2017090763A1 | 2017-06-01 | |||
| WO2019164003A1 | 2019-08-29 |
Other References:
YUMA YAMADA, KANA SOMIYA, ERIKO KAWAMURA, HIDEYOSHI HARASHIMA: "P-58: Validation of gene therapy for mutated mitochondria by mitochondrial RNA delivery using a liposome-based nano device for mitochondrial delivery", LECTURE ABSTRACTS OF THE 4TH ANNUAL CONFERENCE OF NUCLEIC ACIDS THERAPEUTICS SOCIETY OF JAPAN; JULY 7-9, 2018, 2018, pages 129, XP009524721
ZI-FEN GUO; WU-SHUANG GUO; LI XIAO; GUO-QIANG GAO; FEN LAN; XUE-GUAN LU; KAI LI; DUAN-FANG LIAO: "Discrimination of A1555G and C1494T Point Mutations in the Mitochondrial 12S rRNA Gene by On/Off Switch", APPLIED BIOCHEMISTRY AND BIOTECHNOLOGY, vol. 166, no. 1, 10 November 2012 (2012-11-10), pages 234 - 242, XP019998979, ISSN: 1559-0291, DOI: 10.1007/s12010-011-9419-4
B. J. SCRIMSHAW, FAED J. M., TATE W. P., YUN K.: "Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity", JOURNAL OF HUMAN GENETICS, vol. 44, no. 6, 1 October 1999 (1999-10-01), pages 388 - 390, XP055759740, ISSN: 1434-5161, DOI: 10.1007/s100380050184
DIANA LYRAWATI; ALAN TROUNSON; DAVID CRAM: "Expression of GFP in the Mitochondrial Compartment Using DQAsome-Mediated Delivery of an Artificial Mini-mitochondrial Genome", PHARMACEUTICAL RESEARCH, vol. 28, no. 11, 11 August 2011 (2011-08-11), pages 2848 - 2862, XP019961721, ISSN: 1573-904X, DOI: 10.1007/s11095-011-0544-0
NATSUKO MIZUNO, KITAYAMA TETSUSHI, FUJII KOJI, NAKAHARA HIROAKI, YOSHIDA KANAKO, SEKIGUCHI KAZUMASA, YONEZAWA NAOTO, NAKANO MINORU: "A D19S433 Primer Binding Site Mutation and the Frequency in Japanese of the Silent Allele It Causes", JOURNAL OF FORENSIC SCIENCE, vol. 53, no. 5, 1 September 2008 (2008-09-01), pages 1068 - 1073, XP055759742, ISSN: 0022-1198, DOI: 10.1111/j.1556-4029.2008.00806.x
WALLACE D F; DOOLEY J S; WALKER A P: "A Novel Mutation of HFE Explains the Classical Phenotype of Genetic Hemochromatosis in a C282Y Heterozygote", GASTROENTEROLOGY, vol. 116, no. 6, 1 June 1999 (1999-06-01), pages 1409 - 1412, XP027522264, ISSN: 0016-5085, DOI: 10.1016/S0016-5085(99)70505-6
MINAKO MARUYAMA, YUMA YAMADA, TOMOKO KITA, SHINICHIRO KITAJIRI, SHINICHI USAMI, HIDEKICHI HARASHIMA: "P-058: Validation of gene therapy for mutated mitochondria by ribosomal RNA delivery using a liposome-based nano device for mitochondrial delivery", LECTURE ABSTRACTS OF THE 5TH ANNUAL CONFERENCE OF NUCLEIC ACIDS THERAPEUTICS SOCIETY OF JAPAN; JULY 10-12, 2019, vol. 5, 1 July 2019 (2019-07-01) - 12 July 2019 (2019-07-12), JP, pages 138, XP009524805
ELSON JOANNA L; SMITH PAUL M; GREAVES LAURA C; LIGHTOWLERS ROBERT N; CHRZANOWSKA-LIGHTOWLERS ZOFIA M A; TAYLOR ROBERT W; VILA-SANJ: "The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease", MITOCHONDRION, vol. 25, 5 September 2015 (2015-09-05), pages 17 - 27, XP029303627, ISSN: 1567-7249, DOI: 10.1016/j.mito.2015.08.004
ZI-FEN GUO; WU-SHUANG GUO; LI XIAO; GUO-QIANG GAO; FEN LAN; XUE-GUAN LU; KAI LI; DUAN-FANG LIAO: "Discrimination of A1555G and C1494T Point Mutations in the Mitochondrial 12S rRNA Gene by On/Off Switch", APPLIED BIOCHEMISTRY AND BIOTECHNOLOGY, vol. 166, no. 1, 10 November 2012 (2012-11-10), pages 234 - 242, XP019998979, ISSN: 1559-0291, DOI: 10.1007/s12010-011-9419-4
B. J. SCRIMSHAW, FAED J. M., TATE W. P., YUN K.: "Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity", JOURNAL OF HUMAN GENETICS, vol. 44, no. 6, 1 October 1999 (1999-10-01), pages 388 - 390, XP055759740, ISSN: 1434-5161, DOI: 10.1007/s100380050184
DIANA LYRAWATI; ALAN TROUNSON; DAVID CRAM: "Expression of GFP in the Mitochondrial Compartment Using DQAsome-Mediated Delivery of an Artificial Mini-mitochondrial Genome", PHARMACEUTICAL RESEARCH, vol. 28, no. 11, 11 August 2011 (2011-08-11), pages 2848 - 2862, XP019961721, ISSN: 1573-904X, DOI: 10.1007/s11095-011-0544-0
NATSUKO MIZUNO, KITAYAMA TETSUSHI, FUJII KOJI, NAKAHARA HIROAKI, YOSHIDA KANAKO, SEKIGUCHI KAZUMASA, YONEZAWA NAOTO, NAKANO MINORU: "A D19S433 Primer Binding Site Mutation and the Frequency in Japanese of the Silent Allele It Causes", JOURNAL OF FORENSIC SCIENCE, vol. 53, no. 5, 1 September 2008 (2008-09-01), pages 1068 - 1073, XP055759742, ISSN: 0022-1198, DOI: 10.1111/j.1556-4029.2008.00806.x
WALLACE D F; DOOLEY J S; WALKER A P: "A Novel Mutation of HFE Explains the Classical Phenotype of Genetic Hemochromatosis in a C282Y Heterozygote", GASTROENTEROLOGY, vol. 116, no. 6, 1 June 1999 (1999-06-01), pages 1409 - 1412, XP027522264, ISSN: 0016-5085, DOI: 10.1016/S0016-5085(99)70505-6
MINAKO MARUYAMA, YUMA YAMADA, TOMOKO KITA, SHINICHIRO KITAJIRI, SHINICHI USAMI, HIDEKICHI HARASHIMA: "P-058: Validation of gene therapy for mutated mitochondria by ribosomal RNA delivery using a liposome-based nano device for mitochondrial delivery", LECTURE ABSTRACTS OF THE 5TH ANNUAL CONFERENCE OF NUCLEIC ACIDS THERAPEUTICS SOCIETY OF JAPAN; JULY 10-12, 2019, vol. 5, 1 July 2019 (2019-07-01) - 12 July 2019 (2019-07-12), JP, pages 138, XP009524805
ELSON JOANNA L; SMITH PAUL M; GREAVES LAURA C; LIGHTOWLERS ROBERT N; CHRZANOWSKA-LIGHTOWLERS ZOFIA M A; TAYLOR ROBERT W; VILA-SANJ: "The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease", MITOCHONDRION, vol. 25, 5 September 2015 (2015-09-05), pages 17 - 27, XP029303627, ISSN: 1567-7249, DOI: 10.1016/j.mito.2015.08.004
Attorney, Agent or Firm:
UMEDA Shinsuke et al. (JP)
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