公开(公告)号：US20090054248A1

公开(公告)日：2009-02-26

申请号：US11587867

申请日：2005-04-28

申请人： Michael H. Gollob ,  Douglas L. Jones ,  Andrew D. Krahn

发明人： Michael H. Gollob ,  Douglas L. Jones ,  Andrew D. Krahn

IPC分类号： C40B30/04 ,  C12Q1/68 ,  C12Q1/02 ,  C12N15/87 ,  C07H21/04 ,  C40B40/08

CPC分类号： C07K14/705 ,  A61K48/00 ,  C12Q1/6837 ,  C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  G01N33/6887 ,  G01N2333/705

摘要： A method of detecting cardiac arrhythmia in a patient is described. This method involves determining whether there is a mutation in the nucleotide sequence, the amino acid sequence, or both, of connexin40 obtained from a patient. The mutation may be localized within the transmembrane domain of connexin40. Furthermore, there is described a method of identifying a compound for the treatment of cardiac arrhythmia. This method involves providing a cell culture that is characterized by having impaired intracellular trafficking, impaired electrical coupling, reduced gap junction plaque formation, reduced intracellular coupling, or a combination thereof, when compared to a wild-type cell. A compound is added to the cell culture, and restoration of intracellular trafficking, electrical coupling, gap junction plaque formation, intracellular coupling, or a combination thereof, is monitored.

摘要翻译： 描述了一种检测患者心律失常的方法。 该方法包括确定从患者获得的连接蛋白40的核苷酸序列，氨基酸序列或两者是否存在突变。 突变可能位于连接蛋白40的跨膜结构域内。 此外，描述了鉴定用于治疗心律失常的化合物的方法。 该方法涉及提供细胞培养物，其特征在于与野生型细胞相比，其具有受损的细胞内运输，受损的电耦合，减少的间隙连接斑块形成，减少的细胞内偶联或其组合。 将化合物加入到细胞培养物中，监测细胞内运输，电耦合，间隙连接斑块形成，细胞内偶联或其组合的恢复。