Thyroid Peroxidase Gene Mutations Associated with Thyroid Disorders

The TPO gene belongs to the group of genes responsible for the biosynthesis of thyroid hormones and encodes thyroid peroxidase, a key enzyme involved in this process. Mutations in these genes can result in thyroid dysfunction characterized by reduced levels of thyroid hormones. Hypothyroidism caused by TPO pathogenic variants typically presents as permanent hypothyroidism and is frequently associated with endemic goiter. This analytical review summarizes and systematizes data from the studies conducted in different regions of the world on mutations identified in the TPO gene in patients with hypothyroidism. Particular attention is given to mutations within structural and functional domains of thyroid peroxidase, which has a unique molecular architecture within its family.