Mutations in the thyrotropin receptor gene: correlation between genetically altered structural elements of the thyrotropin receptor and functional disorders of the thyroid gland

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Abstract

The thyroid-stimulating hormone receptor (TSHR), one of the main autoantigens of the thyroid gland (TG), along with thyroglobulin and thyroid peroxidase, plays a key role in the metabolism of thyroid hormones, controls the growth and functions of thyrocytes. Due to the heterogeneity of etiology and pathogenesis, there are many functional disorders of the thyroid gland caused by hyperthyroidism, hypothyroidism or thyroid tumors. This analytical review systematizes data from 1993 on mutations in the TSH gene, identified in the genome of patients with hyperthyroidism, hypothyroidism or thyroid tumors, on various domains of the TSH receptor, which has a unique structure for this family of receptors.

About the authors

A. V. Zubkov

Mechnikov Research Institute of Vaccine and Sera

Email: alex_zubkov@list.ru
Moscow, 105064 Russia

O. A. Svitich

Mechnikov Research Institute of Vaccine and Sera; Sechenov First Moscow State Medical University (Sechenov University)

Email: alex_zubkov@list.ru
Moscow, 105064 Russia; Moscow, 119435 Russia

V. V. Fadeev

Sechenov First Moscow State Medical University (Sechenov University)

Email: alex_zubkov@list.ru
Moscow, 119435 Russia

L. G. Butova

Mechnikov Research Institute of Vaccine and Sera

Author for correspondence.
Email: alex_zubkov@list.ru
Moscow, 105064 Russia

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