Background: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. The physiological role of pendrin in the thyroid is still unclear and the lack of a thyroid phenotype in some patients with SLC26A4 mutations and in Slc26a4 (-/-) mice indicate the existence of environmental or individual modifiers able to compensate for pendrin inactivation in the thyroid. Since pendrin can transport iodide in vitro, variations in iodide supply have been claimed to account for the thyroid phenotype associated with pendrin defects. Aim: the Slc26a4 (-/-) mouse model was used to test the hypothesis that iodide supply may influence the penetrance and expressivity of SLC26A4 mutations. Materials and methods: Slc26a4 (-/-) and (+/+) mice were fed up to 6 months on a standard or low iodine diet and were evaluated for thyroid structural abnormalities or biochemical hypothyroidism. Results: a 27-fold iodide restriction induced similar modifications in thyroid histology, but no differences in thyroid size, T4 or TSH levels were observed between between Slc26a4 (-/-) and (+/+) mice, either in standard conditions and during iodine restriction. Conclusions: iodide restriction is not able to induce a thyroid phenotype in Slc26a4 (-/-) mice. These experimental data, together with those coming from a review of familial Pendred cases leaving in regions either with low or sufficient iodide supply, support the idea that the expression of thyroid phenotype in Pendred syndrome is more powerfully influenced by individual factors than by dietary iodide.
Absence of primary hypothyroidism and goiter in Slc26a4(-/-) mice fed on a low iodine diet / D. Calebiro, P. Porazzi, M. Bonomi, S. Lisi, A. Grindati, D. De Nittis, L. Fugazzola, M. Marinò, G. Bottà, L. Persani. - In: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. - ISSN 0391-4097. - 34:8(2011 Sep 09), pp. 593-598.
|Titolo:||Absence of primary hypothyroidism and goiter in Slc26a4(-/-) mice fed on a low iodine diet|
|Parole Chiave:||Slc26A4; Pendred syndrome; thyroid; iodine; hypothyroidism; thyroid hormonogenesis; goiter|
|Settore Scientifico Disciplinare:||Settore MED/13 - Endocrinologia|
|Data di pubblicazione:||9-set-2011|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.3275/7262|
|Appare nelle tipologie:||01 - Articolo su periodico|