tHyroId aBnormaLIty and neuroLogIcaL deFIcIts reLated to mct8 Loss-oF-FunctIon mutatIons
ثبت نشده
چکیده
In addition, a recent study by Di Cosmo et al suggested a putative role of MCT8 in thyroid hormone secretion. Thyroid hormones are released across the basolateral membrane of thyroid follicular cells, adjacent to the capillary bed. MCT8 immunohistochemical localization at the basolateral membrane of thyrocytes and the impairment in the efflux of T4 from the thyroid gland in MCT8KO mice implies that MCT8 mediates, at least in part, the transport of thyroid hormones from the thyrocytes into the bloodstream. Of the studied thyroid hormone transporters, MCT8 is the most abundantly expressed, followed by MCT10 and, to a lesser extent, the secondary TH transporters Lat1 and Lat2. According to Nishimura and Naito, MCT8 is abundantly expressed in the human thyroid gland and therefore the molecular mechanism regulating thyroid hormone secretion in mice could also exist in humans.
منابع مشابه
Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome
Thyroid hormone (TH) is crucial for normal brain development. TH transporters control TH homeostasis in brain as evidenced by the complex endocrine and neurological phenotype of patients with mutations in monocarboxylate transporter 8 (MCT8). We investigated the mechanisms of disease by analyzing gene expression profiles in fibroblasts from patients with MCT8 mutations. Studying MCT8 and its tr...
متن کاملThyroid Hormones in Brain Development and Function
Thyroid hormones are essential for brain developat through specific time windows influencing neurogenesis, neuronal migration, neuronal and glial cell differentiation, myelination, and synaptogenesis. The actions of thyroid hormones are mostly due to interaction of the active hormone T3 with nuclear receptors and regulation of gene expression. T4 and T3 also perform non-genomic actions. The gen...
متن کاملCerebral Cortex Hyperthyroidism of Newborn Mct8-Deficient Mice Transiently Suppressed by Lat2 Inactivation
Thyroid hormone entry into cells is facilitated by transmembrane transporters. Mutations of the specific thyroid hormone transporter, MCT8 (Monocarboxylate Transporter 8, SLC16A2) cause an X-linked syndrome of profound neurological impairment and altered thyroid function known as the Allan-Herndon-Dudley syndrome. MCT8 deficiency presumably results in failure of thyroid hormone to reach the neu...
متن کاملUnderstanding the hypothalamus-pituitary-thyroid axis in mct8 deficiency.
Thyroid hormone (TH) metabolism and action via binding to nuclear receptors are intracellular events that require the passage of TH across the plasma membrane. This process is mediated by specific TH transporters of which the monocarboxylate transporter 8 (Mct8) has received major attention. Mct8 is highly expressed in different tissues such as liver, kidney, thyroid, pituitary and brain. In hu...
متن کاملPregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.
CONTEXT Monocarboxylate transporter 8 (MCT8 or SLC16A2) mutations cause X-linked Allan-Herndon-Dudley syndrome. Heterozygous females are usually asymptomatic, but pregnancy may modify thyroid function and MCT8 is expressed in the placenta, suggesting that maternal and fetal abnormalities might develop even in the absence of MCT8 fetal mutation. Genetic counseling is so far based on X-linked tra...
متن کامل