Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

ABSTRACT:

Background

The monocarboxylate transporter 8 (MCT8) plays a vital role in maintaining brain thyroid hormone homeostasis. This transmembrane transporter is expressed at the brain barriers, as the blood-brain barrier (BBB), and in neural cells, being the sole known thyroid hormone-specific transporter to date. Inactivating mutations in the MCT8 gene (SLC16A2) cause the Allan-Herndon-Dudley Syndrome (AHDS) or MCT8 deficiency, a rare X-linked disease characterized by delayed neurodevelopment and severe psychomotor disorders. The underlying pathophysiological mechanisms of AHDS remain unclear, and no effective treatments are available for the neurological symptoms of the disease.

Methods

Neurovascular unit ultrastructure was studied by means of transmission electron microscopy. B

SUBMITTER: Guillen-Yunta M 

PROVIDER: S-EPMC10623792 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature