| 摘要 |
PROBLEM TO BE SOLVED: To provide an effective test method for Cushing's syndrome by elucidating the molecular pathologic condition which is a cause of the syndrome; a biomarker for test for Cushing's syndrome; and further a therapeutic agent of Cushing's syndrome that focuses on the biomarker. ! SOLUTION: The inventors found out there are cases where the PRKACA gene which encodes a catalytic subunit of cAMP-dependent protein kinase has mutation in Cushing's syndrome, thus making the present invention. According to the test method of the invention, a test for Cushing's syndrome can be effectively conducted. In particular, a test for ACTH-independent Cushing's syndrome, which is conventionally difficult to diagnose, can be effectively conducted. Further, a mutant PRKACA can be used as a biomarker for Cushing's syndrome test. The invention may contribute to development of a therapeutic agent for Cushing's syndrome, which targets a mutant PRKACA. ! COPYRIGHT: (C)2015,JPO&INPIT |
