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OBJECTIVE Thyroid peroxidase (TPO) deficiency is one of the causes of thyroid dyshormonogenesis, because TPO plays a key role in thyroid hormone biosynthesis. To determine the frequency and pattern of TPO abnormalities, we have been screening TPO genes of patients with congenital goitrous hypothyroidism. SUBJECTS AND METHODS TPO genes of a patient with(More)
Five mutated thyroid peroxidases (TPO) with varying degrees of disturbance in cell surface expression, probably owing to misfolding, were comparatively analyzed. CHO-K1 cells transfected with these mutated mRNAs expressed TPO protein in 65.6-82.1% of cells in antibody staining, and the TPOs were located in intracellular structures like the nuclear envelope(More)
Thyroid peroxidase (TPO) abnormality is one of the causes of congenital hypothyroidism. Two missense mutations were found as a compound heterozygous mutation in two siblings with congenital goitrous hypothyroidism. One of these mutations, G614A (R175Q), was a novel mutation. Characterization of the novel mutation and a cotransfection experiment with two(More)
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