PMID: 8958790Nov 1, 1996Paper

Introducing a point mutation identified in a patient with pituitary resistance to thyroid hormone (Arg 338 to Trp) into other mutant thyroid hormone receptors weakens their dominant negative activities

The Journal of Endocrinology
S AndoT Yoshimi

Abstract

Clinical resistance to thyroid hormone (RTH) has been classified into generalized resistance to thyroid hormone (GRTH) and pituitary resistance to thyroid hormone (PRTH) types. Since similar mutations have been identified in tri-iodothyronine (T3) receptor (TR) beta gene in GRTH and PRTH, and since considerable overlap has been seen in the clinical manifestations in patients with GRTH and PRTH, two subtypes of RTH are now considered to be a continuous spectrum with the same genetic defect. A point mutation at amino acid Arg 338 to Trp (R338W) which we identified in a patient with PRTH is very interesting, since R338W has been found in several other patients with PRTH, raising the possibility that this mutation may tend to associate with a phenotype of PRTH. In our previous study, we found that R338W had relatively less impaired transcriptional potency, weaker dominant negative activity on various T3 response elements and poor homodimer formation, as compared with another GRTH mutant. In this study, to investigate the functional properties of R338W further, especially in terms of the relation between transcriptional activity and dimer formations, we introduced the R338W mutation into the mutant receptors, K443E and F451X, constr...Continue Reading

Citations

Feb 10, 2012·The Journal of Clinical Endocrinology and Metabolism·Alfonso Massimiliano FerraraSamuel Refetoff
Jul 16, 2011·Journal of Thyroid Research·Meghan D Rosen, Martin L Privalsky
Jun 29, 2006·The Journal of Clinical Endocrinology and Metabolism·Sunee MamanasiriSamuel Refetoff

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