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    • 2. 发明申请
    • USE OF THE HUMAN PHOTOMEDIN-2 / OLFACTOMEDIN-LIKE 2B GENE (OLFML2B), ITS GENE VARIANTS AND ITS PROTEIN FOR DIAGNOSTIC AND THERAPEUTIC APPROACHES TO HEART DISEASES
    • 人类光合素-2 / OLFACTOMEDIN-like 2B基因(OLFML2B),其基因变异体及其蛋白质用于心脏疾病诊断和治疗方法的应用
    • WO2009036976A1
    • 2009-03-26
    • PCT/EP2008/007821
    • 2008-09-18
    • HELMHOLTZ ZENTRUM MÜNCHEN-DEUTSCHES FORSCHUNGSZENTRUM FÜR GESUNDHEIT UND UMWELT (GMBH)PFEUFER, ArneMEITINGER, ThomasKÄÄB, StefanAKYOL, MahmutSINNER, Moritz
    • PFEUFER, ArneMEITINGER, ThomasKÄÄB, StefanAKYOL, MahmutSINNER, Moritz
    • C12Q1/68
    • C12Q1/6883C07K14/47C12Q2600/156C12Q2600/158
    • The present invention relates to a method for determining a predisposition for or an acute or chronic heart disease in a subject, comprising assaying a sample from the subject for a genetic variant of the OLFML2B gene or mRNA transcribed therefrom or a variant of the OLFML2B protein or for an alteration in the expression level of the OLFML2B gene, wherein the presence of said genetic variant, said variant of the protein or said alteration in the expression level is indicative of a predisposition for or an acute or chronic heart disease. Furthermore, the invention relates to a nucleic acid molecule representative of the variant of the invention. The invention also relates to a vector comprising the nucleic acid molecule of the present invention and a method for the production of a polypeptide encoded by the nucleic acid molecule or by the vector of the invention and culturing a host under conditions allowing the expression of the polypeptide and recovering the polypeptide of the present invention. Moreover, the invention discloses a polypeptide encoded by the nucleic acid molecule or produced by the method of the present invention and an antibody specifically recognizing said polypeptide. The invention also envisages the use of OLFML2B protein or a functional fragment thereof in the manufacture of a pharmaceutical composition for the treatment of a heart disease, wherein the OLFML2B protein is the wild type protein, and moreover, gene therapies on the basis of nucleic acid molecules encoding the wild type protein.
    • 本发明涉及一种用于确定受试者的急性或慢性心脏病易感性的方法,包括测定来自受试者的用于OLFML2B基因的遗传变体或从其转录的mRNA或OLFML2B蛋白的变体的样品,或 用于OLFML2B基因的表达水平的改变,其中所述遗传变体的存在,所述蛋白质的所述变体或所述表达水平的所述改变指示为急性或慢性心脏病的易感性。 此外,本发明涉及代表本发明变体的核酸分子。 本发明还涉及包含本发明的核酸分子的载体和用于产生由核酸分子或本发明的载体编码的多肽的方法,并且在允许表达多肽的条件下培养宿主 并回收本发明的多肽。 此外,本发明公开了由核酸分子编码或通过本发明的方法产生的多肽和特异性识别所述多​​肽的抗体。 本发明还设想使用OLFML2B蛋白或其功能片段制备用于治疗心脏病的药物组合物,其中OLFML2B蛋白是野生型蛋白,此外,基于核酸的基因治疗 编码野生型蛋白质的分子。