Molecular genetics of benign thyroid disease

Thyroid diseases include forms amenable to alterations in genes involved in functional regulatory processes, morphofunctional development, hormogenesis and hormone functional expression. A number of genetic diseases are consequent of a point mutation, the cause of the replacement of a single nucleotide which may alter the chromosome number structure and morphology. Among structural anomalies there is deletion, duplication, inversion, translocation and isochromosome formation. Among thyroid diseases, the underlying cause of some of them is represented by alterations in genes regulating the thyroid function, alterations in genes of thyroid differentiation. Less common are the alterations in genes connected with the synthesis of proteins involved in hormone transport while alteration in genes encoding thyroid hormone receptors and in genes involved in thyroid neoplastic transformation are extensively described in literature. The studies of molecular biology will allow in-dept knowledge of the pathogenesis of thyroid disease associated to genetic alterations.