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METHOD FOR DETECTING MITOCHONDRIAL tRNA MODIFICATION NEW

外国特許コード F180009502
整理番号 (S2017-0228-N0)
掲載日 2018年11月1日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2017JP047099
国際公開番号 WO 2018124235
国際出願日 平成29年12月27日(2017.12.27)
国際公開日 平成30年7月5日(2018.7.5)
優先権データ
  • 特願2016-255808 (2016.12.28) JP
発明の名称 (英語) METHOD FOR DETECTING MITOCHONDRIAL tRNA MODIFICATION NEW
発明の概要(英語) The purpose of the present invention is to provide a method for detecting a modified nucleoside of mitochondrial transition RNA (mt-tRNA). The present invention provides a method for detecting a modified nucleoside in mt-tRNA, the method using tandem mass analysis, and including detecting a modified nucleoside (for example, 5-taurinomethyl-2-thiouridine (τ m5s2U)), 5-taurinomethyluridine (τ m5U), or 2-methylthio-N6-isopentenyl adenosine (ms2i6A)) in a specimen of a bodily fluid such as urine or in a specimen in a culture supernatant.
従来技術、競合技術の概要(英語) BACKGROUND ART
Mitochondrial DNA is derived from mitochondrial RNA (tRNA) the transition type 22 is present, also derived from mitochondrial DNA in 13 kinds of protein is essential for the translation.Mt-tRNA is known to contain a number of chemical modifications and, to this base of the mt-tRNA, where the total of 118 types of chemical modifications at the base 15 have been identified.For example, of the mt-tRNA, tRNA is the first one 5 of the modification 34 of the uridine taurine.Wherein, mt-tRNALeu and mt-tRNATrp is taurinomechiru of (τm5 U) and, mt-tRNAGln, mt-tRNAGlu and mt-tRNALys taurinomethyl thiol-is (τm5 s2 U) (Fig. 1) is.Also, mt-tRNATrp is, the modified 37 th ms or adenosine2 i6 Aare.
Taurine in mitochondria modified findings of importance of the patient from the mitochondria has been suggested (Non-Patent Document 1).Also, ms2 i6 Amitochondrial disease has been implicated.Mitochondrial DNA of a mitochondrial disease is mainly due to point mutations, many of the energy demands of skeletal muscle cardiac disease genetic disorders.By way of example, one of the mitochondrial DNA point mutations, mt-tRNALeu encoding DNA generated in an area A3243G point mutations, and mt-tRNALys DNA encoding A8344G occurs in areas of particularly high frequency of point mutations.Interestingly, a point mutation in patients with A3243G, mt-tRNALeu of τm5 modification has been lost.In addition, has point mutations in mitochondrial disease patients A8344G, mt-tRNALys of τm5 s2 modification has been lost.From these, mitochondrial disease due to the reduction of the development of modified taurine is strongly suggested.
That is, starting with a uridine nucleoside taurine modified by analyzing the amount of modified, mitochondrial disease can be diagnosed.However, in the prior art, for example, to analyze the modified uridine taurine, a large amount of muscle tissue from the patient and must be collected, a mitochondrial disease onset of many children in the diagnosis cannot be applied.
  • 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)
  • TOMIZAWA KAZUHITO
  • WEI FANYAN
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 DJ DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IR IS JO JP KE KG KH KN KP KR KW KZ LA LC LK LR LS 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 SA 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 KM ML MR NE SN ST TD TG
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