公开(公告)号：WO2014018375A1

公开(公告)日：2014-01-30

申请号：PCT/US2013/051124

申请日：2013-07-18

申请人： XENON PHARMACEUTICALS INC.

发明人： FRANCHINI, Patrick, Lorenzo, Angelo ,  TIETJEN, Ian, William ,  HAYDEN, Michael, Reuben ,  SINGARAJA, Roshini, Rebecca ,  RADOMSKI, Christopher, Charles, Alexander ,  PERCIVAL, Michael, David ,  EYERS, Maryanne, Sharon ,  DEAN, Richard, Asher ,  XIE, Zhiwei

IPC分类号： C12Q1/68

CPC分类号： C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/136 ,  C12Q2600/156

摘要： The present invention embodiments relate to the diagnosis, prevention and/or treatment of diseases related to abnormal lipid metabolism. More particularly, disclosed herein is the discovery in human subjects having elevated HDL of mutated human CYP8B1 encoding genes and their encoded proteins, and exploitation of this discovery for use in compositions and methods for the diagnosis, treatment and prevention of cardiovascular diseases, such as dyslipidemia, atherosclerosis, low HDL diseases and related disorders, including methods for identifying agents that modulate CYP8B1 activity. Accordingly there are provided methods for detecting, diagnosing, prognosing or determining a predisposition to diseases related to abnormal lipid metabolism, as well as CYP8B1-directed screening assays, kits, antibodies, agents, nucleic acids, polypeptides, cells, vectors, transgenic animals and compositions.

摘要翻译： 本发明实施方案涉及诊断，预防和/或治疗与脂代谢异常有关的疾病。 更具体地，本文公开的是在具有突变的人CYP8B1编码基因及其编码的蛋白质的HDL升高的人类受试者中的发现，以及用于诊断，治疗和预防心血管疾病如血脂异常的组合物和方法的该发现的开发 ，动脉粥样硬化，低HDL疾病和相关疾病，包括用于鉴定调节CYP8B1活性的药剂的方法。 因此，提供了用于检测，诊断，预测或确定与异常脂质代谢相关的疾病的倾向性以及CYP8B1定向筛选测定，试剂盒，抗体，试剂，核酸，多肽，细胞，载体，转基因动物和 成分。