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Institute/Center: CSIC-UAM Instituto de Investigaciones Biomédicas "Alberto Sols" (IIBM)

Author: Ana Guadaño Ferraz y Daniela López Espíndola

In this project we want to contribute to the understanding of the nature and timing of the human brain damage in MCT8 deficiency by analysing the histopathological alterations in brains from patients with MCT8 mutations. We expect to get deeper knowledge of the specific target cells and target systems of thyroid hormones and MCT8 mutations in the human nervous system. We also expect to better understand some of the pathological bases of clinical manifestations of the neurological syndrome. All of this will provide strong evidences about the timing of damage during neurodevelopment, critical data for the design of further clinical interventions in this disease. "Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination",

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11-year-old boy´s cerebellum with deficiency in the thyroid hormone transporter MCT8 (Monocarboxylate transporter 8)