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METHOD FOR SCREENING FOR SUBSTANCE

外国特許コード F130007270
整理番号 S2011-1164-N0
掲載日 2013年4月5日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2012JP073272
国際公開番号 WO 2013039087
国際出願日 平成24年9月12日(2012.9.12)
国際公開日 平成25年3月21日(2013.3.21)
優先権データ
  • 特願2011-197931 (2011.9.12) JP
発明の名称 (英語) METHOD FOR SCREENING FOR SUBSTANCE
発明の概要(英語) The present invention provides a method for screening for a substance that promotes the induction of induced pluripotent stem cells from cells derived from a body having contracted a disease with which it is not possible to manufacture induced pluripotent stem cells by only the introduction of an initialization gene. The present invention enables the provision of a method for screening for a substance, the method including cultivating, in the presence of a test substance, cells into which an initialization gene has been introduced, the cells being derived from a body having contracted a disease with which it is not possible to manufacture induced pluripotent stem cells by only the introduction of an initialization gene, and segregating out the test substance, which promotes the induction of the cells to induced pluripotent stem cells.
従来技術、競合技術の概要(英語) BACKGROUND ART
Skeletal dysplasia (Fibrodysplasia ossificans progressiva progressive ossification; FOP) is, progressive, and in a wide range of post-bone to soft tissue and/or intramuscular congenital disorder (non-patent document 1-3). Severe weakness, reduction in life expectancy due to adhesion of the joint, the constraint of the chest with the involvement of ventilation at the major symptoms of the disease in the disorder. The patient FOP, gradually deteriorates the respiratory function, for respiratory failure and ultimately death before the age 40. FOP ectopic bone associated with effective treatment to prevent does not exist. In a recent study, known as BMP1 receptor type ALK2 (ACVR1) activin A receptor by a mutation in 1, this disease has been occurs in the (non-patent document 3-9). And the most common mutation is R206H, the kinase activity of ALK2 is changed, as a result, the constitutive kinase activity of ALK2 is considered to be increased. For example, in the G356D ALK2 mutation as well as a number of schemes such as FOP have been reported and the phenotype of the mutation, they also can affect the kinase activity of ALK2 can cause constitutive activation have been reported (non-patent document 10). ALK2 (G356D) ALK2 (R206H) Of the kinase activity is weaker than the shown, ALK2 clinical change due to a difference in biological activity in variant is suggested (non-patent document 11).
Also, mitochondrial diseases include, diseases caused by mitochondrial functional decline of the general term of, as a representative example of chronic progressive external ocular paralysis syndrome, red rag fibers, myoclonic epilepsy syndrome, fibromyalgia and mitochondrial brain, lactic acidosis, stroke-like symptoms is. Mitochondrial disease refers to, in vivo in all cells at uniform abnormality may occur in the mitochondria from the pathological condition is with or without a variety of translation and, no fundamental therapy is intractable.
In addition, the lysosomes is a disease that is, the lysosomes is one of an intracellular organelle associated with a deficiency caused by disease, resulting in degradation of the original substance to accumulate in the body due to the disease. The lysosomes is a disease that is, loss of the enzyme is different depending on the type of disease and symptoms, there are currently approximately 30 classes of diseases. Is as a treatment method of the lysosomes, enzyme replacement therapy, organ transplantation, bone marrow transplantation and the like are performed, depending on the medical condition is substantially no effect also cannot be obtained, a fundamental therapy is not known.
On the other hand, the cell is derived from the patient's body (iPS cell) is an induced pluripotent stem cell, as well as biomedical research, the effect of agents on cells from a patient as a powerful means for a discussion of expected. IPS cells generated from a particular disease phenotype associated with the disease can be reproduced and are revealed. However, the pathogenicity of the disease specific human iPS cell generation and maintenance of the effect is still unknown how and, progressive fibrosis in bone dysplasia, mitochondrial disease, injuries in the lysosomes disease and the like may be prepared example iPS cells is not known to date.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • NATIONAL UNIVERSITY CORPORATION KUMAMOTO UNIVERSITY
  • 発明者(英語)
  • ERA Takumi
国際特許分類(IPC)
指定国 National States: AE AG AL AM AO AT AU AZ BA BB BG BH BN BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IS JP KE KG KM KN KP KR KZ LA LC LK LR LS LT LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PA PE PG PH PL PT QA RO RS RU RW SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA RW SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG
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