Gene expression profiles of fibroblasts from MCT8 patients

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. Skin fibroblasts of controls and patients were cultured in different thyroid states for 24 h.

甲状腺激素（Thyroid hormone）对大脑正常发育至关重要。甲状腺激素转运蛋白（Thyroid hormone transporters）负责维持大脑内甲状腺激素的稳态。甲状腺激素转运蛋白MCT8的突变可引发复杂的内分泌与神经表型。本研究通过分析携带MCT8突变患者的成纤维细胞（fibroblasts）基因表达谱，探究了该疾病的发病机制。通过开展比较转录组分析（comparative transcriptome analysis），我们将患者成纤维细胞中的差异表达基因与人类大脑转录组（transcriptome）进行了关联分析。我们将对照组与患者的皮肤成纤维细胞置于不同甲状腺激素状态的培养体系中培养24小时。