Iodide handling disorders (NIS, TPO, TG, IYD)
| Autor: | Héctor M. Targovnik, Cintia E. Citterio, Carina M. Rivolta |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Sodium-iodide symporter Thyroid Hormones medicine.medical_specialty CIENCIAS MÉDICAS Y DE LA SALUD Hydrolases Endocrinology Diabetes and Metabolism medicine.medical_treatment Thyroid Gland Inmunología Genetic Counseling 030209 endocrinology & metabolism Autoantigens Iodide Peroxidase Thyroglobulin 03 medical and health sciences THYROGLOBULIN 0302 clinical medicine Endocrinology Thyroid dyshormonogenesis Thyroid peroxidase Iron-Binding Proteins Internal medicine Congenital Hypothyroidism medicine Humans Iodide transport music music.instrument Symporters biology Chemistry Thyroid Membrane Proteins Membrane Transport Proteins Pendrin Iodides THYROID PEROXIDASE medicine.disease Medicina Básica 030104 developmental biology medicine.anatomical_structure IODOTYROSINE DEIODINASE Mutation Iodotyrosine deiodinase biology.protein SODIUM IODIDE SYMPORTER |
| Zdroj: | Best Practice & Research Clinical Endocrinology & Metabolism. 31:195-212 |
| ISSN: | 1521-690X |
| DOI: | 10.1016/j.beem.2017.03.006 |
| Popis: | Iodide Handling Disorders lead to defects of the biosynthesis of thyroid hormones (thyroid dyshormonogenesis, TD) and thereafter congenital hypothyroidism (CH), the most common endocrine disease characterized by low levels of circulating thyroid hormones. The prevalence of CH is 1 in 2000–3000 live births. Prevention of CH is based on prenatal diagnosis, carrier identification, and genetic counseling. In neonates a complete diagnosis of TD should include clinical examination, biochemical thyroid tests, thyroid ultrasound, radioiodine or technetium scintigraphy and perchlorate discharge test (PDT). Biosynthesis of thyroid hormones requires the presence of iodide, thyroid peroxidase (TPO), a supply of hydrogen peroxide (DUOX system), an iodine acceptor protein, thyroglobulin (TG), and the rescue and recycling of iodide by the action of iodotyrosine deiodinase or iodotyrosine dehalogenase 1 (IYD or DEHAL1). The iodide transport is a two-step process involving transporters located either in the basolateral or apical membranes, sodium iodide symporter (NIS) and pendrin (PDS), respectively. TD has been linked to mutations in the solute carrier family 5, member 5 transporter (SLC5A5, encoding NIS), solute carrier family 26, member 4 transporter (SLC26A4, encoding PDS), TPO, DUOX2, DUOXA2, TG and IYD genes. These mutations produce a heterogeneous spectrum of CH, with an autosomal recessive inheritance. Thereafter, the patients are usually homozygous or compound heterozygous for the gene mutations and the parents, carriers of one mutation. In the last two decades, considerable progress has been made in identifying the genetic and molecular causes of TD. Recent advances in DNA sequencing technology allow the massive screening and facilitate the studies of phenotype variability. In this article we included the most recent data related to disorders caused by mutations in NIS, TPO, TG and IYD. Fil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina Fil: Citterio, Cintia Eliana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina Fil: Rivolta, Carina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina |
| Databáze: | OpenAIRE |
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