Disorder of thyroid hormone transport into the tissues

Groeneweg, Stefan; Visser, W. Edward; Visser, Theo J.

doi:10.1016/j.beem.2017.05.001

Cited by 67 publications

(43 citation statements)

References 107 publications

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“…The biological targets and/or molecular mechanisms involved are diverse and the most prominent based on the current knowledge include the following (Bianco andKim, 2006, Crofton, 2008;Miller et al, 2009;Chemicals Regulation Directorate 2013;Dong and Wade, 2017;Groeneweg et al, 2017;Lerro et al, 2018;Mughal et al, 2018): • Blockage of or competition for the iodide uptake into follicular cells of the thyroid gland via sodium iodide symporter (NIS), which is the initial step of thyroid hormone biosynthesis. The biological targets and/or molecular mechanisms involved are diverse and the most prominent based on the current knowledge include the following (Bianco andKim, 2006, Crofton, 2008;Miller et al, 2009;Chemicals Regulation Directorate 2013;Dong and Wade, 2017;Groeneweg et al, 2017;Lerro et al, 2018;Mughal et al, 2018): • Blockage of or competition for the iodide uptake into follicular cells of the thyroid gland via sodium iodide symporter (NIS), which is the initial step of thyroid hormone biosynthesis.…”

Section: Question 2: How Sure Is It That These Ass Combine Their Indimentioning

confidence: 99%

Establishment of cumulative assessment groups of pesticides for their effects on the thyroid

Crivellente¹,

Hart²,

Hernández‐Jerez³

et al. 2019

EFS2

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Cumulative assessment groups of pesticides have been established for two specific effects on the thyroid: firstly hypothyroidism, and secondly parafollicular cell (C-cell) hypertrophy, hyperplasia and neoplasia. Sources of uncertainties resulting from the methodological approach and from the limitations in available data and scientific knowledge have been identified and considered. This report supports the publication of a scientific report on cumulative risk assessment to pesticides affecting the thyroid, in which all uncertainties identified for either the exposure assessment or the establishment of the cumulative assessment groups are incorporated into a consolidated risk characterisation.

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Section: Question 2: How Sure Is It That These Ass Combine Their Indimentioning

confidence: 99%

Establishment of cumulative assessment groups of pesticides for their effects on the thyroid

Crivellente¹,

Hart²,

Hernández‐Jerez³

et al. 2019

EFS2

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“…Impaired uptake of T3 across the blood‐brain barrier (BBB) and into neurons already during embryonic brain development, which is normally mediated via the highly specific thyroid hormone transporter MCT8, leads to the observed neurological defects. Since the initial finding in 2004, over 80 MCT8 mutations across the entire coding region have been described in more than 100 families with AHDS 78. Interestingly, the effect of the mutations on MCT8 activity and function correlates with the severity of the observed variation of AHDS phenotypes 77…”

Section: Ophthalmological Diseasesmentioning

confidence: 99%

Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy

Fisel

Schaeffeler

Schwab

2018

Clinical Translational Sci

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The solute carrier (SLC) SLC16 gene family comprises 14 members and encodes for monocarboxylate transporters (MCTs), which mediate the absorption and distribution of monocarboxylic compounds across plasma membranes. As the knowledge about their physiological function, activity, and regulation increases, their involvement and contribution to cancer and other diseases become increasingly evident. Moreover, promising opportunities for therapeutic interventions by directly targeting their endogenous functions or by exploiting their ability to deliver drugs to specific organ sites emerge.

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“…Affected males are characterized by truncal hypotonia, limb rigidity, and severe psychomotor defects [12]. The typical biochemical abnormalities of AHDS include high serum total and free T3 levels and low reverse T3 levels despite low T4 and normal or elevated TSH [10].…”

Section: Introductionmentioning

confidence: 99%

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes

et al. 2018

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Background/Aims: Syndromes of reduced sensitivity to thyroid hormone can be caused by innate resistance to thyroid hormone (RTH), thyroid hormone cell transporter defects, or thyroid hormone metabolism defects. This study was performed to describe clinical, endocrinological, and molecular characteristics of patients with disorders associated with impaired sensitivity to thyroid hormone due to THRB or SLC16A2 mutations. Methods: This study included 5 probands (1 male and 4 females) with RTH and 6 patients with Allan-Herndon-Dudley syndrome (AHDS). Clinical features and endocrine findings were reviewed retrospectively. Molecular analysis of two candidate genes, THRB or SLC16A2, confirmed the diagnosis. Results: Among RTH patients, median age at diagnosis was 5.6 years. Three patients were classified as having generalized RTH, whereas the other 2 patients were regarded as having isolated pituitary RTH. Three novel heterozygous mutations and 2 known mutations in THRB were identified from 5 independent pedigrees. All mutations were located in the major ligand-binding domain. In AHDS patients, delayed development was apparent between 3 and 6 months of age. Direct sequencing of SLC16A2 identified 6 hemizygous missense mutations in each patient: p.I188N, p.G221R, p.A224V, p.G276R, p.W398R, and p.G401R. Conclusions: This study identified 3 novel mutations in THRB in RTH patients and 1 novel mutation in SLC16A2 in AHDS patients. Routine neonatal screening based on the TSH assay has a limited role in detecting RTH or AHDS. Therefore, genetic testing of the candidate genes THRB and SLC16A2 should be performed for diagnosis of RTH and AHDS in patients with the suggestive clinical phenotype.

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Disorder of thyroid hormone transport into the tissues

Cited by 67 publications

References 107 publications

Establishment of cumulative assessment groups of pesticides for their effects on the thyroid

Establishment of cumulative assessment groups of pesticides for their effects on the thyroid

Clinical and Functional Relevance of the Monocarboxylate Transporter Family in Disease Pathophysiology and Drug Therapy

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the <b><i>THRB</i></b> and <b><i>SLC16A2</i></b> Genes

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