Topic: MCT8

The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked human disorder characterized by mutations in the MCT8 gene, critical for thyroid hormone (TH) transport across the blood-brain-barrier (BBB). Such central TH deprivation leads to intellectual disability and movement disorders.To understand disrupted processes and to refine future treatment strategies with TH analogs, we conduced single nucleus RNA sequencing studies in a mouse model engineered to replicate the central TH deficiency of AHDS, featuring a dual deletion of MCT8 and the mouse-specific T4 transporter OATP1C1. Bioinformatical an

Neuronal development can be severely impacted under pathological conditions, altering the maturation of neuronal cells. Allan Herndon Dudley Syndrome (AHDS) is a rare X-linked syndrome caused by a mutation in the SLC16A2 gene, which encodes the specific transporter (monocarboxylate transported 8, MCT8) of thyroid T3 hormone, reducing its presence in the central nervous system and leading to severe neurological impairment. We investigated the neuronal maturation in an in vitro organoid model of AHDS, in which the pathological condition was resembled by removing the T3 hormone from the culture m

Myelin producing human oligodendrocytes express the main thyroid hormone plasma membrane transporter, monocarboxylate transporter 8 (MCT8). Our group has demonstrated that MCT8 is dysfunctional in conditions of developmental or acquired myelin diseases such as progressive multiple (MS). Small molecules that can bypass MCT8, such as the thyroid hormone analog, diiodothyropropionic acid (DITPA), may improve re-myelination and provide neuroprotection in the central nervous system (CNS), following immune-mediated damage described in a mouse model that mimics MS-like disease.Using the myelin oligod