THYROID HORMONE CELL-MEMBRANE TRANSPORTERS DEFECT: A NOVEL GENETIC SYNDROME OF THYROID HORMONE RESISTANCE

Mateus Fernandes Da Silva Medeiros,Helton Estrela Ramos

doi:10.17267/2317-3386bjmhh.v2i1.355

Mateus Fernandes Da Silva Medeiros, Helton Estrela Ramos

Open Access

https://doi.org/10.17267/2317-3386bjmhh.v2i1.355

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Abstract

Many studies has confirmed the crucial role of thyroid hormone transporters for TH action in human target cells. The importance was better understood by observing the phenotype in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene immediately linked to Allan Herndon-Dudley Syndrome (AHDS), in which severe neurological findings are associated with abnormal Thyroid hormone levels. The disease is X-chromossome linked, with males presenting a homogeneous neurological psychomotor phenotype and mental retardation associated with low serum T4 and elevated T3 levels. The mechanism of disease is still obscure and either the physiopathology as the existent therapeutic options need to be better studied.

Highlights

Correct intracellular T3 concentration is important for the normal human development and exerts its action on virtually all type of tissues
It has been found many transporters that selectively facilitates the thyroid hormone (TH) passage across the cell membrane.[1]. The important role of transporters for TH in humans was established by the observations in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene which presented severe neurological findings associated with unusual abnormalities in thyroid function.[2, 3]
MD, PhD, Adjunct Professor, Department of Biorregulation, Health & Science Institute, Federal University of Bahia, Salvador, Brazil; MCT8 is expressed in many tissues throughout the body, including the brain, skeletal muscle, liver and placenta.[1]. This contribution illustrates how a genetic disease perturbing the supply of biological active TH to cells affects the development and maturation of the central nervous system

Summary

Introduction

Correct intracellular T3 concentration is important for the normal human development and exerts its action on virtually all type of tissues. It has been found many transporters that selectively facilitates the TH passage across the cell membrane.[1] The important role of transporters for TH in humans was established by the observations in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene which presented severe neurological findings associated with unusual abnormalities in thyroid function.[2, 3]

Results

Conclusion