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What is Gs-alpha mutation may lead to? - and explain in detail?
G(s) alpha mutations in fibrous dysplasia and McCune-Albright syndrome. Weinstein LS1. Author information Abstract Fibrous dysplasia (FD) is a focal bone lesion composed of immature mesenchymal osteoblastic precursor cells. Some FD patients also have hyperpigmented skin lesions (cafe-au-lait spots), gonadotropin-independent sexual precocity, and/or other endocrine and nonendocrine manifestations (McCune-Albright syndrome ). MAS results from somatic mutations occurring during early development, resulting in a widespread mosaic of normal and mutant-bearing cells, which predicts that the clinical presentation of each patient is determined by the extent and distribution of abnormal cells. These mutations encode constitutively active forms of G(s)alpha, the ubiquitously expressed G protein alpha-subunit that couples hormone receptors to intracellular cAMP generation. These mutations lead to substitution of amino acid residues that are critical for the intrinsic GTPase activity that is normally required to deactivate the G protein. It also may lead to pseudo and psuedopseudohypoparathyroidism.