funtional characterization of variants in human TPO gene using baculovirus expression

MARICEL F MOLINA; EZEQUIELA ADROVER; SEBASTIÁN R GONZÁLEZ

Congreso; Reunion anual de sociedades de biociencias; 2023

The congenital hypothyroidism (CH) is the most common endocrine disease associated with preventable mental retardation in children with a prevalence of 1 in 2000-3000 live births. Variants in Thyroid peroxidase (TPO) are more often associated with permanent CH by iodide organification defect (IOD) and are commonly inherited in an autosomal recessive manner. TPO is a 933 amino acids long membrane-bound glycoprotein located at the apical membrane of the thyroid follicular cells that plays a key role in thyroid hormones biosynthesis by catalyzing both iodination and coupling of iodotyrosine residues within the thyroglobulin molecule. The TPO enzyme activity depends on both proper folding and membrane insertion, and an intact catalytic site. The aim of this study was to investigate the functional impact of TPO gene missense mutations previously identified in our laboratory in patients with permanent CH.