ey0021.3-11 | Defects in Thyroid Hormone Transport, Metabolism and Action | ESPEYB21
Becker Paul Carlos
, Guth-Steffens Mandy
, Lazarow Katina
, Sonntag Niklas
, Braun Doreen
, Masfaka Islam
, Renko Kostja
, Schomburg Lutz
, Kohrle Josef
, von Kries Jens Peter
, Schweizer Ulrich
, Krause Gerd
, Protze Jonas
Brief Summary: This basic science study examined how 3,5,3-triiodothyroacetic acid (TRIAC) - a thyroid hormone (TH) receptor agonist used in patients with resistance to TH, and in patients with Allan-Herndon-Dudley syndrome (AHDS), caused by mutations in monocarboxylate transporter 8 (MCT8) - is transported into cells independent of MCT8. Through a genome-wide RNAi screening in HepG2 cells, two key transporters, SLC22A9 (OAT7) and SLC29A2 (ENT2), were identified that fac...