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    • 2. 发明申请
    • PERIPHERICAL TISSUE SAMPLE CONTAINING CELLS EXPRESSING THE 5HTR2C AND/OR ADARS AS MARKERS OF THE ALTERATION OF THE MECHANISM OF THE 5HTR2C MRNA EDITING AND ITS APPLICATIONS
    • 包含表达5HTR2C和/或ADARS的细胞的外周组织样品作为改变5HTR2C MRNA编码机制的标记及其应用
    • WO2008152146A1
    • 2008-12-18
    • PCT/EP2008/057519
    • 2008-06-13
    • BIOCORTECHWEISSMANN, DinahPUJOL, Jean-FrançoisVINCENT, LaurentCAVAREC, LaurentMANN, John
    • WEISSMANN, DinahPUJOL, Jean-FrançoisVINCENT, LaurentCAVAREC, LaurentMANN, John
    • C12Q1/68
    • C12Q1/6883C12Q2600/136C12Q2600/158G01N33/6896G01N33/942
    • The present invention relates to an in vitro method for predicting a pathology related to an alteration of the mechanism of the mRNA editing of ADAR dependent A to I mRNA editing, particularly the serotonin 2C receptor (5HTR2C), in a patient from a peripherical tissue sample containing cells expressing said mRNA, such as the 5HTR2C mRNA, and/or adenosine deaminases acting on RNA (ADARs), such as skin and/or blood tissue sample. The present invention further comprises a method for identifying if an agent is capable of in vivo modifying the editing of the 5HTR2C mRNA in brain tissue or to control the efficiency of a drug intended to prevent or to treat a pathology related to an alteration of the mechanism of the 5HTR2C mRNA editing brain tissue, these methods comprising the implementation of said peripherical tissue markers. In a particular aspect, the present invention relates to such methods wherein the 5HTR2C mRNA editing rate or profile, when it is necessary, is determined by a single strand conformation polymorphism (SSCP) method after amplification by a PCR, preferably by a nested PCR, of the specific mRNA fragment containing the edition sites, making it possible, under given analytical conditions, to obtain the editing rate and/or profile of this edited 5HTR2C mRNA from said peripherical tissue. Finally the invention relates to particular nucleic acid primers implemented in said nested PCR.
    • 本发明涉及一种用于预测来自外周组织样品的患者中ADAR依赖性A至I mRNA编辑的mRNA编辑,特别是5-羟色胺2C受体(5HTR2C)的mRNA编辑的机制的改变的病理学的体外方法 含有表达所述mRNA的细胞,例如5HTR2C mRNA,和/或作用于RNA(ADAR)的腺苷脱氨酶,例如皮肤和/或血液组织样品。 本发明还包括用于鉴定药物是否能够体内修饰脑组织中的5HTR2C mRNA的编辑或控制旨在预防或治疗与机制改变有关的病理学的效力的方法 的5HTR2C mRNA编辑脑组织,这些方法包括实施所述外周组织标记物。 在特定方面,本发明涉及这样的方法,其中当需要时,通过PCR扩增后优选通过巢式PCR,通过单链构象多态性(SSCP)方法确定5HTR2C mRNA编辑速率或分布, 的具有编码位点的特异性mRNA片段,使得在给定的分析条件下可以从所述外周组织获得该编辑的5HTR2C mRNA的编辑率和/或分布。 最后,本发明涉及在所述巢式PCR中实施的特定核酸引物。