Gene expression profiles of fibroblasts from MCT8 patients. Homo sapiens

Thyroid hormone is crucial for normal brain development. Thyroid hormone transporters control thyroid hormone homeostatis in brain. Mutations in the thyroid hormone transporter MCT8 result in a complex endocrine and neurological phenotype. We investigated the mechanisms of disease by analyzing gene expression profiles in fibroblasts from patients with mutations in MCT8. Performing comparative transcriptome analysis, we linked the genes differentially expressed in patient fibroblasts to the human brain transcriptome. Overall design: Skin fibroblasts of controls and patients were cultured in different thyroid states for 24 h.