Detection of kdm1a loss of activity for diagnosing endocrine disorders

Abstract

The present results show that KDM1A is a key epigenetic regulator of tissue-specific expression of GIP receptor and possibly of other receptors from the G-protein coupled receptor family in hormone-producing glands, and that its alteration leads to the development of aberrant overexpression of eutopic hormone receptors or expression of ectopic hormone receptors that lead to abnormal steroidogenesis. They also show that loss of expression of KDM1A is likely to be the initiating event that trigger the abnormal cell proliferation leading to the development of tissue lesions in adrenal and possibly in other endocrine tissues (notably in the adrenal glands). The present invention therefore proposes to detect altered expression of KDM1A in the genome of subjects, in order to diagnose a genetic predisposition to an endocrine disease and/or to an endocrine hyperplasia. On another hand, the present results suggest that the physiological eutopic GIP receptor expression in the pancreas may be also epigenetically regulated by KDM1A. This expression could be pharmacologically targeted by KDM1A inhibitors so as to treat patients suffering from diabetes mellitus and other metabolic diseases.

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