Activating and inactivating hormone receptor mutations.

The unravelling of gene structures of hormones, their receptors and the various components of their signal transduction apparatus has enabled diagnosis of the aetiology of hormone resistance at the molecular level. Inactivating mutations can be found in hormone receptor genes or those encoding components of the post-receptor signal transduction cascade. Another category of receptor mutation is that causing constitutive receptor activation, which results in ligand-independent, inappropriate or supraphysiological hormone action and in some cases malignant growth. The purpose of this contribution is to review the different types of inactivation and activation mechanisms that are induced by receptor mutations, using some of the best characterised mutations as examples. In addition, the currently known mutations of hormone receptors are briefly summarised. Copyright 2000 S. Karger AG, Basel