New mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.
"SECISBP2 syndrome has confounded the scientific community. New approaches to study the biological underpinnings of SECISBP2 syndrome are thus critical to truly make progress against this disorder," said Douglas Forrest, PhD, of the National Institute of Diabetes and Digestive and Kidney Diseases, and Program Co-Chair of the ATA Annual Meeting.
SECISBP2 syndrome is caused by an atypical resistance to thyroid hormone In patients with this disease, aberrant thyroid hormone levels (high T4, low T3, elevated rT3, and high-to-normal TSH) indicate a defect in deiodinase-dependent thyroid hormone metabolism. Findings of reduced concentrations of plasma selenoproteins suggested a generalized defect of selenoprotein biosynthesis and led to the identification of mutations in the SECISBP2 gene. SECISBP2 is thought to play an essential role for selenoprotein biosynthesis. Mutations in the SECISBP2 gene lead to reduced expression of selenoproteins and cause a syndrome with relatively mild to more severe phenotypes.