Article
Endocrinology & Metabolism
Ferdy S. van Geest, Stefan Groeneweg, Erica L. T. van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A. A. van den Berg, Enrico Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D. Chesover, Peter Christian, Regis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R. Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Klosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E. Muller, Laura Paone, Praveen G. Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B. de Rijke, Rowen Seckold, Tuba Seven Menevse, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie Van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P. Peeters, W. Edward Visser
Summary: Triac shows sustainable relief of key features in MCT8 deficiency patients of all ages, highlighting its real-life potential for MCT8 deficiency.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Biochemistry & Molecular Biology
Jiesi Chen, Eva Salveridou, Lutz Liebmann, Sivaraj M. Sundaram, Denica Doycheva, Boyka Markova, Christian A. Hubner, Anita Boelen, W. Edward Visser, Heike Heuer, Steffen Mayerl
Summary: Patients with inactive thyroid hormone transporter MCT8 show intellectual disability. The thyromimetic compounds Triac and Ditpa were compared for their potential therapeutic effects in a mouse model of MCT8 deficiency. Triac was found to be more effective in promoting CNS maturation and function in the mice.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Pediatrics
Qiang Zhang, Qi Yang, Xunzhao Zhou, Zailong Qin, Shang Yi, Jingsi Luo
Summary: This study identified novel genetic variants associated with Allan-Herndon-Dudley syndrome and summarized its clinical symptoms. The findings have clinical value for prenatal and postnatal screening of the condition.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Xiaodan Chen, Li Liu, Chunhua Zeng
Summary: This study reported the first case of AHDS treated by Triac in China and expanded the mutational spectrum of the SLC16A2 gene in AHDS patients.
Article
Endocrinology & Metabolism
Ferdy S. van Geest, Marcel E. Meima, Kyra E. Stuurman, Nicole Wolf, Marjo S. van der Knaap, Claudia F. Lorea, Fabiano O. Poswar, Filippo Vairo, Nicola Brunetti-Pierri, Gerarda Cappuccio, Priyanka Bakhtiani, Sonja A. de Munnik, Robin P. Peeters, W. Edward Visser, Stefan Groeneweg
Summary: Genetic variants in the SLC16A2 gene can cause MCT8 deficiency, leading to intellectual and motor disabilities as well as abnormal thyroid function tests. Variants affecting the intracellular C-terminal tail of MCT8 are likely benign unless they cause frameshifts that elongate the MCT8 protein. These findings provide clinical guidance in assessing the pathogenicity of variants within the C-terminal domain of MCT8.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Gandhari Maity-Kumar, Lisa Staender, Meri DeAngelis, Sooyeon Lee, Anna Molenaar, Lore Becker, Lillian Garrett, Oana Amerie, Sabine M. Hoelter, Wolfgang Wurst, Helmut Fuchs, Annette Feuchtinger, Valerie Gailus-Durner, Cristina Garcia-Caceres, Ahmed E. Othman, Caroline Brockmann, Vanessa Schoeffling, Katja Beiser, Heiko Krude, Piotr A. Mroz, Susanna Hofmann, Jan Tuckermann, Richard D. DiMarchi, Martin Hrabe de Angelis, Matthias H. Tschoep, Paul T. Pfluger, Timo D. Mueller
Summary: In this study, researchers generated a new Mct8/Oatp1c1 double-knockout mouse model and demonstrated that this model could mimic key features of the Allan-Herndon-Dudley syndrome (AHDS). The findings suggest that the Mct8/Oatp1c1 dKO mice are a valuable preclinical model for evaluating drugs for the treatment of AHDS.
MOLECULAR METABOLISM
(2022)
Article
Medical Laboratory Technology
Rachel Sze-wan Yiu, Tsz-ki Ling, Chun-hung Ko, Sarah Wing-yiu Poon, Grace Wing-kit Poon, Felix Chi-kin Wong, Chun-yiu Law, Hideyuki Iwayama, Chingwan Lam
Summary: This study reports four cases of Chinese patients with MCT8 deficiency. The results suggest that early detection of rT3 is crucial for improving the current diagnostic approach for MCT8 deficiency. It is recommended to consider a full thyroid function evaluation in all pediatric patients presenting with developmental delay and/or dystonia, and the inclusion of rT3 measurement in newborn screening may be promising.
CLINICA CHIMICA ACTA
(2023)
Article
Cell Biology
Steffen Mayerl, Andrea Alcaide Martin, Reinhard Bauer, Markus Schwaninger, Heike Heuer, Charles ffrench-Constant
Summary: Inactivating mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) and organic anion transporting polypeptide 1c1 (OATP1C1) have different effects on adult hippocampal neurogenesis, with MCT8 loss leading to reduced neuron formation and OATP1C1 loss having no significant impact on granule cell neuron production and behavior.
Article
Endocrinology & Metabolism
Nadia Silva, Marco Antonio Campinho
Summary: This study uses a zebrafish Mct8 knockout model to analyze genes regulated by maternal thyroid hormones (MTH) through quantitative PCR. The results show that MTH plays an important role in the development of the central nervous system, promoting the maintenance and development of specific neural progenitor cells, and involves modulation of NOTCH signaling in a non-autonomous cell manner.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Cell Biology
Devon Siemes, Pieter Vancamp, Boyka Markova, Philippa Spangenberg, Olga Shevchuk, Bente Siebels, Hartmut Schlueter, Steffen Mayerl, Heike Heuer, Daniel Robert Engel
Summary: In this study, the researchers investigated the mechanisms underlying locomotor disabilities caused by thyroid hormone transporter MCT8 deficiency using an animal model. They performed proteome analysis and found significant differences in protein expression between wild-type and double knockout mice. They also identified a potential candidate gene, Pde10a, which may be involved in the pathogenic pathway of human MCT8 deficiency.
Article
Clinical Neurology
Roberta Solazzi, Giuliana Nanni, Silvia Esposito, Margherita Estienne, Elena Freri, Federica Zibordi, Laura Canafoglia, Barbara Castellotti, Tiziana Granata
Summary: Allan-Herndon-Dudley syndrome (AHDS) is a severe genetic disorder caused by mutations in the SLC16A2 gene. It is characterized by central hypothyroidism and chronic peripheral thyrotoxicosis, leading to poor growth, intellectual disability, spastic tetraparesis, and movement disorders. A retrospective analysis found repetitive sleep starts (RSS) in all subjects with AHDS, suggesting that it may be underestimated or misdiagnosed.
PEDIATRIC NEUROLOGY
(2023)
Article
Cell & Tissue Engineering
Katarzyna Anna Ludwik, Robert Opitz, Sabine Jyrch, Matthias Megges, January Weiner, Dieter Beule, Peter Kuehnen, Harald Stachelscheid
Summary: Using CRISPR/Cas9 technology, the missense variant and novel knock-out deletion variant of the SLC16A2 gene associated with Allan-Herndon-Dudley syndrome were introduced into healthy donor cells, leading to the successful generation of cerebral organoids to model the effects of MCT8 deficiency on human neurodevelopment.
STEM CELL RESEARCH
(2023)
Review
Biochemistry & Molecular Biology
Arun Meyyazhagan, Antonio Orlacchio
Summary: This review provides an overview of hereditary spastic paraplegia (HSP), including its clinical manifestations, etiology, diagnosis, and treatment methods. Although modern medical interventions have helped, there is still room for improvement in the treatment of this disorder.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Samuel Refetoff, Theodora Pappa, Meredith K. Williams, M. Gisele Matheus, Xiao-Hui Liao, Karen Hansen, Lindsey Nicol, Melinda Pierce, Peter A. Blasco, Mandie Wiebers Jensen, Juan Bernal, Roy E. Weiss, Alexandra M. Dumitrescu, Stephen LaFranchi
Summary: This study demonstrates for the first time that prenatal treatment can improve neuromotor and neurocognitive function in MCT8 deficiency. Earlier treatment with TH analogues that concentrate in the fetus when given to the mother may further rescue the phenotype.
Review
Endocrinology & Metabolism
Maurice Pagnin, Delphi Kondos-Devcic, Ginevra Chincarini, Angela Cumberland, Samantha J. Richardson, Mary Tolcos
Summary: Thyroid hormones play a crucial role in vertebrate central nervous system development and function, particularly in the key neurodevelopmental process of myelination. Adequate levels of THs are essential for promoting proper neural function by supporting the maturation of myelin-producing cells.
FRONTIERS IN NEUROENDOCRINOLOGY
(2021)
Letter
Clinical Neurology
Steven P. Trau, William B. Gallentine
PEDIATRIC NEUROLOGY
(2018)
Article
Virology
Tatiana Chirkova, Seyhan Boyoglu-Barnum, Kelsey A. Gaston, Fahad M. Malik, Steven P. Trau, Antonius G. P. Oomens, Larry J. Anderson
JOURNAL OF VIROLOGY
(2013)
Letter
Clinical Neurology
Steven P. Trau, Carolyn E. Pizoli
PEDIATRIC NEUROLOGY
(2020)
Editorial Material
Clinical Neurology
Steven P. Trau, William B. Gallentine, Mohamad A. Mikati
Letter
Clinical Neurology
Steven P. Trau
PEDIATRIC NEUROLOGY
(2020)
Article
Clinical Neurology
Steven P. Trau, Emily C. Sterrett, Lydia Feinstein, Linh Tran, William B. Gallentine, Dmitry Tchapyjnikov
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
(2020)
Article
Clinical Neurology
Steven Patrick Trau, Luke Quehl, Tamy H. M. Tsujimoto, Feng-Chang Lin, Harvey S. Singer
Summary: Since the COVID-19 pandemic, there has been a significant change in the presentation of patients with tics. The aim of this study was to create a diagnostic checklist for functional tic disorders during the pandemic.
NEUROLOGY-CLINICAL PRACTICE
(2022)