Clinical disorders associated with carboxypeptidase E mutation

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

1995-05-26

1997-01-14

Wax, Robert A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435212, 436 63, 436811, 424 9463, C12G 168, C12N 948

Patent

active

055938370

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:
Fricker, Lloyd D., Neuroprotocols 5: 001 (1994).
Manser et al., Biochem J. 267: 517 (1990).
Castano et al. "Identification and cloning of a granule autoantigen (carboxypeptidase-H) associated with Type I diabetes" J. Clin. Endocrin. Metab. 73(6), 1197-1201. 1991.

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