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Insights Into Molecular Properties of the Human Monocarboxylate Transporter 8 by Combining Functional with Structural Information by Gunnar Kleinau; Ulrich Schweizer; Anita Kinne; Josef Köhrle; Annette Grüters; Heiko Krude; Heike Biebermann is a Medicine article available to read on EtoBox.

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## Background The monocarboxylate transporter 8 (MCT8) is a member of the major facilitator superfamily (MFS) and transports specificly iodothyronines. MCT8 mutations are the underlying cause of a syndrome of severe X-linked psychomotor retardation known as the Allan-Herndon-Dudley syndrome. This syndrome is characterized by abnormally high T3, low/normal T4 serum levels and slightly elevated serum TSH. To date, more than 25 pathogenic mutations in __hMCT8__ are known and they are valuable indicators of important regions for structural and functional MCT8 properties. ## Methods We designed a structural human MCT8 model and studied reported pathogenic missense mutations with focus on the estimation of those amino acid positions which are probably sensitive for substrate transport. Furthermore, assuming similarities between determinants of T3 binding observed in the published crystal structure of the thyroid hormone receptor beta occupied by its ligand T3 and the structural MCT8 model, we explore potential T3 binding sites in the MCT8 substrate channel cavity. ## Results We found that all known pathogenic missense mutations are located exclusively in the transmembrane helices and to

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Author

Gunnar Kleinau; Ulrich Schweizer; Anita Kinne; Josef Köhrle; Annette Grüters; Heiko Krude; Heike Biebermann

Publisher

BioMed Central; Springer (Biomed Central Ltd.); [London]: BioMed Central Ltd., c2008-; Springer Science and Business Media LLC (ISSN 1756-6614)

Published

2011

Language

EN

Field

Medicine (Health Sciences)