ArticleBrain : a journal of neurology2022
Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency.
Article in Brain : a journal of neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 38 citations in OpenAlex.
- Beyond the Wiring: White Matter as a Dynamic Regulator of Brain Function and Disease.Neuroscience bulletin · 2026Review
- Hypothalamic control of heart rate and body temperature by thyroid hormones.Reviews in endocrine & metabolic disorders · 2026Review
- Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.Scientific reports · 2026Article
- Neuron-specific expression of murine thyroid hormone transporters Mct8 and Oatp1c1 is dispensable for hippocampus-dependent neuronal functions.Frontiers in endocrinology · 2026Article
- Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.Movement disorders : official journal of the Movement Disorder Society · 2025Observational
- Endothelial and neuronal engagement by AAV-BR1 gene therapy alleviates neurological symptoms and lipid deposition in a mouse model of Niemann-Pick type C2.Fluids and barriers of the CNS · 2025Article
- Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.European thyroid journal · 2024Review
- Endothelial lincRNA-p21 alleviates cerebral ischemia/reperfusion injury by maintaining blood-brain barrier integrity.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2024Article
- Evaluation of BR1 and BI30 AAVs for Brain Endothelial Tropism.ASN neuro · 2024Article
- Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.Frontiers in pediatrics · 2024Review
- Functional gene delivery to and across brain vasculature of systemic AAVs with endothelial-specific tropism in rodents and broad tropism in primates.Nature communications · 2023Article
- Antigen recognition detains CD8Nature communications · 2023Article
- A year in review: brain barriers and brain fluids research in 2022.Fluids and barriers of the CNS · 2023Article
- Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.International journal of molecular sciences · 2023Article
- Single-cell RNA-based phenotyping reveals a pivotal role of thyroid hormone receptor alpha for hypothalamic development.Development (Cambridge, England) · 2023Article
- Functional gene delivery to and across brain vasculature of systemic AAVs with endothelial-specific tropism in rodents and broad tropism in primates.bioRxiv : the preprint server for biology · 2023Article
- Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review.Neuropsychiatric disease and treatment · 2023Article
- Year in Thyroidology: Basic Science.Thyroid : official journal of the American Thyroid Association · 2023Article
- A novel strategy for delivering Niemann-Pick type C2 proteins across the blood-brain barrier using the brain endothelial-specific AAV-BR1 virus.Journal of neurochemistry · 2023Article
- TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.International journal of molecular sciences · 2022Article
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Authors and funding
13 authors at 8 institutions in 3 countries.
Funding
Abstract
A genetic deficiency of the solute carrier monocarboxylate transporter 8 (MCT8), termed Allan-Herndon-Dudley syndrome, is an important cause of X-linked intellectual and motor disability. MCT8 transports thyroid hormones across cell membranes. While thyroid hormone analogues improve peripheral changes of MCT8 deficiency, no treatment of the neurological symptoms is available so far. Therefore, we tested a gene replacement therapy in Mct8- and Oatp1c1-deficient mice as a well-established model of the disease. Here, we report that targeting brain endothelial cells for Mct8 expression by intravenously injecting the vector AAV-BR1-Mct8 increased tri-iodothyronine (T3) levels in the brain and ameliorated morphological and functional parameters associated with the disease. Importantly, the therapy resulted in a long-lasting improvement in motor coordination. Thus, the data support the concept that MCT8 mediates the transport of thyroid hormones into the brain and indicate that a readily accessible vascular target can help overcome the consequences of the severe disability associated with MCT8 deficiency.
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