Searchable abstracts of presentations at key conferences in endocrinology

ea0020s14.2 | Thyroid | ECE2009

DUOX2 gene and thyroid disease

Moreno Jose C

Generation of hydrogen peroxide (H2O2) in thyroid cells is essential for the synthesis of thyroid hormone. H2O2 is produced by the Dual Oxidase 2 (DUOX2) at the apical membrane of the thyrocyte, where it is required by thyroperoxidase for the iodination of thyroglobulin. A dual oxidase maturation factor 2 (DUOXA2) was recently identified as an endoplasmic reticulum-resident protein required for expression of DUOX2 activity. DUOX2 and...

ea0063gp180 | Benign Thyroid Disorders | ECE2019

Urinary concentration of iodotyrosines correlates with the severity of iodine deficiency in dehal1 knockout mice

Gonzalez-Guerrero Cristian , Borso Marco , Garcia-Gimenez Jorge , Salas-Lucia Federico , Alikhani Pouya , Saba Alessandro , Zucchi Riccardo , Moreno Jose C

Thyroid hormone (TH) synthesis requires iodine, a scarce element whose recycling is mediated by DEHAL1 through deiodination of iodotyrosines MIT and DIT. In humans, DEHAL1 defects lead to severe congenital hypothyroidism (CH) non-detected by neonatal screening programs, which involves the risk of mental retardation in infants. The timing for establishment of this hypothyroidism remains unknown, but environmental iodine deficiency may represent a triggering factor. Whi...

ea0016s20.3 | Translational highlights | ECE2008

Monoallelic mutations in DUOXA2 are associated with mild permanent hypothyroidism and goiter

Ventura Paula , Azcona Cristina , Clemente Maria , Albisu Marian , Audi Laura , Carrascosa Antonio , Visser Theo , Moreno Jose C

Generation of H2O2 at the apical membrane of thyroid cells is essential for iodination of thyroglobulin. Dual oxidase 2 (DUOX2) is the catalytic core of the thyroidal H2O2 generator, and its deficiency leads to congenital hypothyroidism (CH) in humans and mice. The Dual oxidase maturation factor 2 (DUOXA2) is a recently identified endoplasmic reticulum (ER)-resident protein required for expression of DUOX2 activity.<p class="abst...

ea0056oc9.1 | Thyroid from basics to clinics | ECE2018

Increased urinary iodide precedes hypothyroidism in Dehal1 knockout mice

Gonzalez-Guerrero Cristian , Lucia Federico S. , Alcaina Yago , Gonzalez-Lopez Ana M. , Buno Antonio , Mora Roberto , De Miguel Maria Paz , Moreno Jose C.

Thyroid hormones (TH) synthesis requires iodine, a scarce element whose recycling is mediated by the iodotyrosine dehalogenase (encoded by the DEHAL1 gene) through deiodination of mono- and di-iodotyrosines. In humans, biallelic mutations in DEHAL1 lead to a severe form of congenital hypothyroidism (CH) non detectable by neonatal screening programs, which involves the risk of mental retardation. The timing and triggering factors of this particular type of hyp...