Clinical disorders associated with carboxypeptidase E mutation

Details Clinical disorders associated with carboxypeptidase E mutation Clinical disorders associated with carboxypeptidase E mutation

1996-10-17

1997-11-25

Wax, Robert A.

Drug, bio-affecting and body treating compositions

Enzyme or coenzyme containing

Hydrolases

435212, 435219, 435226, 435 6, 436 63, A61K 3846, C12G 168, C12N 948

Patent

active

056909322

ABSTRACT:
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.

REFERENCES:
Castano et al. "Identification and cloning of a granule autoantigen (carboxypeptidase-H) associated with type I diabetes" J. Clin. Endocrin. 73, 1197-1201 1991.

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