A Therapeutic Target for Inherited Form of Cushing Syndrome and Endocrine Tumors (PDE11A MUTATIONS IN ADRENAL DISEASE)
Background:
Cushing Syndrome, a disorder
associated with excess production of cortisol affects up to 10 per
15 million people every year. Cushing Syndrome may be caused by
several reasons such as cortisol-producing endocrine tumors and can
be inherited in some instances. Surgery of the adrenal tumor is the
most common method of treatment. New diagnostic and therapeutic
approaches need to be developed for successful management of the
disease.
Technology:
The clinical identification of a
new disease termed "isolated micronodular adrenocortical disease"
(iMAD), as well as the role of PDE11A gene in this disease.
Additionally, the technology also identifies particular sequence
variants of the PDE11A gene associated with abnormal or altered
function of the gene, PDE11A as a potential novel drug target for
the treatment of bilateral adrenal hyperplasia, and possibly other
endocrine tumors and malignancies.
Applications and Modality:
- Identification of PDE11A gene and sequence variants for the
diagnosis of "isolated micronodular adrenocortical disease" (iMAD)
a form of Cushing Syndrome and endocrine tumors, i.e., as
diagnostic tool.
- Identification of PDE 11A as a potential novel drug target for
the treatment of bilateral adrenal hyperplasia and other endocrine
and non-endocrine tumors and malignancies.
Development Status:
Pre-clinical
Contact
Information:
John D. Hewes, Ph.D., NCI
Technology Transfer Center
Phone: 301-435-3121
E-mail: Hewesj@mail.nih.gov
Reference: #479 JC
Updated 10/24/2007
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