公开(公告)号：US07300754B2

公开(公告)日：2007-11-27

申请号：US10830454

申请日：2004-04-23

申请人： Marianne Abi Fadel ,  Catherine Boileau ,  Jean-Pierre Rabes ,  Nabil G. Seidah ,  Mathilde Varret

发明人： Marianne Abi Fadel ,  Catherine Boileau ,  Jean-Pierre Rabes ,  Nabil G. Seidah ,  Mathilde Varret

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07H21/02 ,  C07H21/04

CPC分类号： C12N9/6424 ,  A61K38/00 ,  C12Q1/6883 ,  C12Q2600/156

摘要： The present invention discloses the identification of a human hypercholesterolemia causal gene, which can be used for the diagnosis, prevention and treatment of hypercholesterolemia, more particularly familial hypercholesterolemia, as well as for the screening of therapeutically active drugs. The invention more specifically disclosed that mutations in the PCSK9 gene encoding NARC-1 causes autosomal dominant hypercholesterolemia and represent novel targets for therapeutic intervention. The invention can be used in the diagnosis of predisposition to, detection, prevention and/or treatment of coronary heart disease and, cholesterol, lipid and lipoprotein metabolism disorders, including familial hypercholesterolemia, atherogenic dyslipidemia, atherosclerosis, cardiovascular diseases.

摘要翻译： 本发明公开了可用于诊断，预防和治疗高胆固醇血症，特别是家族性高胆固醇血症以及用于筛选治疗活性药物的人类高胆固醇血症因子基因的鉴定。 本发明更具体地公开了编码NARC-1的PCSK9基因中的突变引起常染色体显性高胆固醇血症并且代表治疗性干预的新靶标。 本发明可用于诊断冠心病，胆固醇，脂质和脂蛋白代谢障碍（包括家族性高胆固醇血症，致动脉粥样硬化性血脂异常，动脉粥样硬化，心血管疾病）的倾向性，检测，预防和/或治疗。