Physiological consequences of the TRalpha1 aporeceptor state.
Many patients have been characterized harboring a mutation in thyroid hormone receptor (TR) beta. Surprisingly none has yet been identified carrying a mutation in TRalpha1. To facilitate the identification of such patients, several animal models with a mutant TRalpha1 have been generated. While some phenotypic characteristics, such as an adult euthyroidism, are similar in the mutant mice, other aspects such as metabolism are quite variable. This review summarizes the most important consequences of a mutation in TRalpha1 in mice focusing on the TRalpha1-R384C mutation, and projects the insights from the animal models to a putative phenotype of patients with a mutated TRalpha1.
Mittag
Jens
J
Department of Cell & Molecular Biology, Karolinska Institute, von Eulers väg 3, 17177 Stockholm, Sweden. jens.mittag@ki.se
Wallis
Karin
K
Vennström
Björn
B
D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D010641:Phenotype; D037021:Thyroid Hormone Receptors alpha / Q000235:genetics* / Q000378:metabolism*; D018382:Thyroid Hormone Resistance Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D013963:Thyroid Hormones / Q000235:genetics* / Q000378:metabolism / Q000627:therapeutic use
D037021:Thyroid Hormone Receptors alpha; D013963:Thyroid Hormones