The Jackson Laboratory

Edward H Leiter

Norman Applezweig

Douglas L Coleman

Jurgen K Naggert

J Urgen Naggert

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.

Clinical disorders associated with carboxypeptidase E mutation

Diabetes is treated by orally administering a dehydroepiandrosterone (DHEA) compound selected from the group consisting of DHEA, DHEA sulfate and soluble DHEA compounds. The DHEA compound is preferably administered in finely dispersed form, powdered or solution, mixed with the food diet of the diabetic in a dosage range of up to 0.4% by weight of the food diet. The pharmacological activity and utility of DHEA as a potent anti-diabetic agent and anti-hyperglycemic agent over a variable range of genetic background is documented.

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Bar Harbor, ME, United States of America

Edward H Leiter