Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges
Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Consequently, the CNS of AHDS patients appe...
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Bioscientifica
2024-11-01
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| Series: | European Thyroid Journal |
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| Online Access: | https://etj.bioscientifica.com/view/journals/etj/13/6/ETJ-24-0286.xml |
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| author | Boyka Markova Steffen Mayerl Heike Heuer |
| author_facet | Boyka Markova Steffen Mayerl Heike Heuer |
| author_sort | Boyka Markova |
| collection | DOAJ |
| description | Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Consequently, the CNS of AHDS patients appears to be in a TH deficient state, which greatly compromises proper neural development and function. Another hallmark of this disease is that patients exhibit elevated serum T3 levels, leading to a hyperthyroid situation in peripheral tissues. Several treatment strategies have been developed and evaluated in preclinical mouse models as well as in patients. Here, we discuss these different therapeutic approaches to overcome MCT8 deficiency and summarize the current achievements and challenges in improving brain maturation in the absence of MCT8. |
| format | Article |
| id | doaj-art-d7f6a6ea3dda416a8b666029fb3f2f1a |
| institution | OA Journals |
| issn | 2235-0802 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | European Thyroid Journal |
| spelling | doaj-art-d7f6a6ea3dda416a8b666029fb3f2f1a2025-08-20T02:27:18ZengBioscientificaEuropean Thyroid Journal2235-08022024-11-0113619https://doi.org/10.1530/ETJ-24-0286Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challengesBoyka Markova0Steffen Mayerl1Heike Heuer2Department of Endocrinology, Diabetes & Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen, Germany; Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Medical Faculty, University of Duisburg-Essen, Essen, Germany Department of Endocrinology, Diabetes & Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen, Germany; Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Medical Faculty, University of Duisburg-Essen, Essen, Germany Department of Endocrinology, Diabetes & Metabolism, University Hospital Essen, University of Duisburg-Essen, Essen, Germany; Center for Translational Neuro- and Behavioral Sciences (C-TNBS), Medical Faculty, University of Duisburg-Essen, Essen, Germany Patients with an inactive thyroid hormone (TH) transporter MCT8 (Allan–Herndon–Dudley Syndrome, AHDS) display severe neurological impairments and motor disabilities, indicating an indispensable function of MCT8 in facilitating TH access to the human brain. Consequently, the CNS of AHDS patients appears to be in a TH deficient state, which greatly compromises proper neural development and function. Another hallmark of this disease is that patients exhibit elevated serum T3 levels, leading to a hyperthyroid situation in peripheral tissues. Several treatment strategies have been developed and evaluated in preclinical mouse models as well as in patients. Here, we discuss these different therapeutic approaches to overcome MCT8 deficiency and summarize the current achievements and challenges in improving brain maturation in the absence of MCT8.https://etj.bioscientifica.com/view/journals/etj/13/6/ETJ-24-0286.xmlthyroid hormone transporterallan–herndon–dudley syndromemct8slc16a2oatp1c1slco1c1triacditpagene therapyphenylbutyrate |
| spellingShingle | Boyka Markova Steffen Mayerl Heike Heuer Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges European Thyroid Journal thyroid hormone transporter allan–herndon–dudley syndrome mct8 slc16a2 oatp1c1 slco1c1 triac ditpa gene therapy phenylbutyrate |
| title | Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges |
| title_full | Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges |
| title_fullStr | Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges |
| title_full_unstemmed | Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges |
| title_short | Toward a treatment for thyroid hormone transporter MCT8 deficiency – achievements and challenges |
| title_sort | toward a treatment for thyroid hormone transporter mct8 deficiency achievements and challenges |
| topic | thyroid hormone transporter allan–herndon–dudley syndrome mct8 slc16a2 oatp1c1 slco1c1 triac ditpa gene therapy phenylbutyrate |
| url | https://etj.bioscientifica.com/view/journals/etj/13/6/ETJ-24-0286.xml |
| work_keys_str_mv | AT boykamarkova towardatreatmentforthyroidhormonetransportermct8deficiencyachievementsandchallenges AT steffenmayerl towardatreatmentforthyroidhormonetransportermct8deficiencyachievementsandchallenges AT heikeheuer towardatreatmentforthyroidhormonetransportermct8deficiencyachievementsandchallenges |