Defective thyroid hormone transport to the brain leads to astroglial alterations

• Published in: Neurobiology of disease Vol. 200; p. 106621
• Main Authors: Guillén-Yunta, Marina, García-Aldea, Ángel, Valcárcel-Hernández, Víctor, Sanz-Bógalo, Ainara, Muñoz-Moreno, Emma, Matheus, Maria Gisele, Grijota-Martínez, Carmen, Montero-Pedrazuela, Ana, Guadaño-Ferraz, Ana, Bárez-López, Soledad
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2024; Elsevier
• Subjects: Adult; Animals; Astrocytes - metabolism; Astrocytes - pathology; Astroglia; Brain - metabolism; Brain - pathology; Child; Female; Humans; Magnetic Resonance Imaging - methods; Male; MCT8; MCT8 deficiency; Mice; Monocarboxylic Acid Transporters - genetics; Monocarboxylic Acid Transporters - metabolism; MRI; Muscle Hypotonia - genetics; Muscle Hypotonia - metabolism; Muscle Hypotonia - pathology; Muscular Atrophy; Symporters - genetics; Symporters - metabolism; Thyroid hormone transporters; Thyroid hormones; Thyroid Hormones - metabolism; X-Linked Intellectual Disability - genetics; X-Linked Intellectual Disability - metabolism; X-Linked Intellectual Disability - pathology; Astroglia; Thyroid hormones; MRI; MCT8; Thyroid hormone transporters; MCT8 deficiency

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disorder that causes severe neurological damage, for which there is no effective treatment. AHDS is due to inactivating mutations in the thyroid hormone transporter MCT8 that impair the entry of thyroid hormones into the brain, resulting in cer...