Effect of mutation on thyroid hormone receptor Beta

Abstract

Thyroid hormone is essential for normal development, growth, neural differentiation, and metabolic regulation in mammals. Thyroid stimulating hormone (TSH), secreted by the anterior pituitary in response to feedback from circulating thyroid hormone, acts directly on the TSH receptor (TSH-R) expressed on the thyroid follicular cell basolateral membrane. These actions are most apparent in conditions of thyroid hormone deficiency during development, such as maternal iodine deficiency or untreated congenital hypothyroidism, manifesting as profound neurologic deficits and growth retardation. Moresubtle and reversible defects are present when ligand deficiency occurs in the adult. There are two TR genes, TRα and TRβ, with different patterns of expression in development and in adult tissues. mutations in THRB gene producing RTHβ, having as a signature elevated serum free iodothyronines levels but non-suppressed thyrotropin (TSH) in the absence of other conditions that may produce some of the characteristic test abnormalities such as congenital hypothyroidism (CH), thyroid dysgenesis and Autoimmune Thyroid Disease.