Molecular genetics of thyroid diseases

Ledent C, Parma J, Dumont J, Vassart G, Targovnik H. Molecular genetics of thyroid diseases. Eur J Endocrinol 1994;130:8–14. ISSN 0804–4643 Over the past 20 years, recombinant deoxyribonucleic acid technology has led to the cloning of three major thyroid specific protein genes (thyroglobulin, thyroperoxidase and thyrotrophin receptor), which happen to be also the main thyroid autoantigens implicated in thyroid diseases. In this context, the impact that molecular genetics has had on the understanding of aetiopathogeny and diagnosis of thyroid diseases is summarized, with special emphasis on a recently discovered genetic mechanism responsible for toxic nodules. One fruitful outcome of the basic research on thyroid-specific gene expression has been the possibility of targeting the expression of a series of genes to the thyroid in transgenic mice. The result is the availability of mouse models mimicking human thyroid diseases such as destructive hypothyroidism, hyperactive thyroid adenomas and thyroid cancers exhibiting varying levels of differentiation. Gilbert Vassart, Institut de Recherche Interdisciplinaire, Faculté de médecine, Université Libre de Bruxelles, Campus Erasme, 808 route de Lennik, 1070 Bruxelles, Belgium