کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2196850 1550944 2010 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genetics and phenomics of thyroid hormone transport by MCT8
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیولوژی سلول
پیش نمایش صفحه اول مقاله
Genetics and phenomics of thyroid hormone transport by MCT8
چکیده انگلیسی

Thyroid hormone (TH) is crucial for the development of different organs, in particular the brain, as disturbances in TH supply cause severe neurological abnormalities. TH transporters are necessary for the intracellular availability of TH to have access to the deiodinases and nuclear receptors inside the cell. The clinical importance of TH transporters is dramatically shown in patients with mutations in MCT8, suffering from severe X-linked psychomotor retardation in combination with disturbed TH levels, especially high serum T3 levels, now referred as Allan–Herndon–Dudley Syndrome (AHDS). Worldwide >45 families have now been identified with MCT8 mutations. Most MCT8 mutations result in a complete loss of TH transport function when tested in vitro, but some mutations show significant residual activity and are associated with a somewhat milder clinical phenotype.It is difficult to identify MCT8 patients only on the basis of the clinical characteristics of X-linked mental retardation. Therefore, the criterion for MCT8 mutation screening in these patients is the profile of increased T3 and low-normal to low FT4 serum levels.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular and Cellular Endocrinology - Volume 322, Issues 1–2, 30 June 2010, Pages 107–113
نویسندگان
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