Clinical disorders associated with carboxypeptidase E mutation
    1.
    发明授权
    Clinical disorders associated with carboxypeptidase E mutation 失效
    与羧肽酶E突变相关的临床疾病

    公开(公告)号:US5593837A

    公开(公告)日:1997-01-14

    申请号:US452262

    申请日:1995-05-26

    IPC分类号: A61K38/00 C12N9/48 C12G1/68

    摘要: Disclosed herein is a therapeutic method for treating a clinical disorder associated with a mutation in the carboxypeptidase E gene. In the therapeutic method of the invention, a molecule having carboxypeptidase activity is introduced into the plasma of the individual being treated. Such molecules include, for example, carboxypeptidase H, carboxypeptidase M, carboxypeptidase N, carboxypeptidase U and carboxypeptidase B. Also disclosed are methods for identifying individuals falling within the class for which the therapeutic method described above can be effective. These methods include, for example, the isolation of DNA encoding carboxypeptidase E followed by either: 1) sequence determination and comparison to wild-type; or 2) expression and comparison of activity to wild-type activity. Also disclosed are oligonucleotide probes useful for diagnosing a clinical disorder such as obesity, impaired glucose tolerance and diabetes in an individual, the clinical disorder being associated with a mutation in the carboxypeptidase E gene.

    摘要翻译: 本文公开了治疗与羧肽酶E基因突变相关的临床病症的治疗方法。 在本发明的治疗方法中,将具有羧肽酶活性的分子引入待治疗的个体的血浆中。 这样的分子包括例如羧肽酶H,羧肽酶M,羧肽酶N,羧肽酶U和羧肽酶B.还公开了鉴定属于上述治疗方法有效的类别内的个体的方法。 这些方法包括例如分离编码羧肽酶E的DNA,之后是:1)序列测定和与野生型的比较; 或2)活性与野生型活性的表达和比较。 还公开了可用于诊断临床病症如肥胖,糖耐量异常和个体糖尿病的寡核苷酸探针,所述临床病症与羧肽酶E基因中的突变有关。