Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients

Mohammad Saiful Islam, Noriyuki Namba, Yasuhisa Ohata, Makoto Fujiwara, Chiho Nakano, Shinji Takeyari, Kei Miyata, Yukako Nakano, Kenichi Yamamoto, Hirofumi Nakayama, Taichi Kitaoka, Takuo Kubota (+1 others)
2019 Endocrine journal  
Monocarboxylate transporter 8 (MCT8) facilitates T3 uptake into cells. Mutations in MCT8 lead to Allan-Herndon-Dudley syndrome (AHDS), which is characterized by severe psychomotor retardation and abnormal thyroid hormone profile. Nine uncharacterized MCT8 mutations in Japanese patients with severe neurocognitive impairment and elevated serum T3 levels were studied regarding the transport of T3. Human MCT8 (hMCT8) function was studied in wildtype (WT) or mutant hMCT8-transfected human placental
more » ... ed human placental choriocarcinoma cells (JEG3) by visualizing the locations of the proteins in the cells, detecting specific proteins, and measuring T3 uptake.
doi:10.1507/endocrj.ej18-0251 fatcat:ckiqdc2oevhipang5pdfuf3noy