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G-protein coupled receptors: GNAS gain and loss of function mutations
Insights:
Gain of function mutation in GNAS (guanine-nucleotide alpha-subunit stimulating) gene leads to cells that work overtime. In McCune-Albright syndrome, endocrine cells work overtime leading to hyperthyroidism, precocious puberty, growth hormone excess, neonatal hypercortisolism and early breast cancer. Melanocytes work overtime leading to cafe au lait spots. Fibroblasts work overtime leading to polyostotic fibrous dysplasia.
Loss of function mutation in GNAS gene leads to cells that are resistant to peripherally circulating hormones. In pseudo-hypoparathyroidism, cells cannot respond to parathyroid hormone, leading to persistent hypocalcaemia with normal PTH levels and skeletal defects. Thus we get the name 'pseudo', because the body functions as if it has low PTH levels.
References
Boyce AM, Florenzano P, de Castro LF, et al. Fibrous Dysplasia/McCune-Albright Syndrome. 2015 Feb 26 [Updated 2018 Aug 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK274564/
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By Damian AmendraInsights:
Gain of function mutation in GNAS (guanine-nucleotide alpha-subunit stimulating) gene leads to cells that work overtime. In McCune-Albright syndrome, endocrine cells work overtime leading to hyperthyroidism, precocious puberty, growth hormone excess, neonatal hypercortisolism and early breast cancer. Melanocytes work overtime leading to cafe au lait spots. Fibroblasts work overtime leading to polyostotic fibrous dysplasia.
Loss of function mutation in GNAS gene leads to cells that are resistant to peripherally circulating hormones. In pseudo-hypoparathyroidism, cells cannot respond to parathyroid hormone, leading to persistent hypocalcaemia with normal PTH levels and skeletal defects. Thus we get the name 'pseudo', because the body functions as if it has low PTH levels.
References
Boyce AM, Florenzano P, de Castro LF, et al. Fibrous Dysplasia/McCune-Albright Syndrome. 2015 Feb 26 [Updated 2018 Aug 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK274564/