Topic: Allan Herndon Dudley Syndrome

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

Thyroid hormone (T3) plays a critical role during early brain and overall central nervous system (CNS) development, and it acts as a major regulator of CNS metabolism and mitochondrial activity.Mutations in the T3 specific receptor monocarboxylate transporter 8 (MCT8) lead to hypothyroidism condition as tough in the Allan Herndon Dudley Syndrome (AHDS), which is characterized by neurodevelopmental defects.We set up a brain organoid model resembling AHDS pathological scenario to study the neurodevelopmental defects and to screen new metabolic target to restore neuronal maturation.AHDS organoids