Candidate Genes in thyroid disorders

Hypothyroidism and hyperthyroidism are well known to be the main clinical features of thyroid pathology. Although a lot of mechanisms of these disorders exist, thyroid resection, radioiodine or drug (antithyroid or hormone replacement) therapy are still common treatment methods. However, in the coming century of gene therapy the comprehension of genetic pathways of the diseases may also be very important. In this article authors represent the defects of hormonogenesis in the systems which provide iodine transport and its intrathyrocytes reactions. TSHR, NIS, TPO, THOX, TG are detailed characterized, some mutations of these genes and corresponding clinical syndromes are described. It’s interesting that in some cases the identical mutation (for example T354P NIS) may have marked heterogenity in clinical pictures: from euthyroid goiter to congenital hypothyroidism. Some patients show cretinism and some remain euthyroid without mental or developmental disorders. Gene-gene interaction, inheritance type and environment factors are likely responsible for such clinical polymorphism. The aim of this article was to catch attention of thyroidologist to very important aspect of thyroid pathogenesis which is not connected with iodine deficient or autoimmune diseases. The competence in genetic research area might significant increase the educational level of practitioners. Key words: thyroid, inherited disorders, natrium-iodide simporter, TSH, hypothyroidism, goiter