Resumen de Bases genéticas de los procesos tiroideos benignos
José Joaquín Lado Abeal, Lourdes Domínguez Gerpe
The advances made in the last decade in gene analysis techniques have greatly simplified the study of the genetic bases of disease, hastening identification of the genes causing or involved in disease development. Rapid and low-cost genome sequencing in all individuals may become a reality. The genetic bases of defects in thyroid hormone formation have been well defined, and those of defects in thyroid ontogeny have been partially defined; in the last 4 years, the genes responsible for 2 new syndromes causing reduced sensitivity of the action of thyroid hormone and affecting thyroid hormone transport (MCT8 mutations) and intracellular metabolism (SECISBP2 mutations) have been discovered. The genetic bases of toxic adenomas and toxic multinodular goiters have been determined and several genes involved in the development of follicular thyroid adenomas have been identified. However, not all the genes involved in thyroid ontogeny have been identified and the genetic bases of multinodular hyperplastic goiter, highly prevalent in some regions of Spain, as well as those of most autoimmune thyroid disorders, are unknown. Major challenges remain in the characterization of the genetic bases of benign thyroid processes, which, together with their high prevalence and the current and future potential of technology, suggest a promising and exciting future in this field of research.
