Die Bedeutung von Schilddrü senhormontransportern

D. Braun

doi:10.1055/s-0037-1616606

Nuklearmedizin - NuclearMedicine, Inhaltsverzeichnis

Nuklearmedizin 2015; 54(03): 77-81
DOI: 10.1055/s-0037-1616606

Innovation Schilddrü se

Schattauer GmbH

Die Bedeutung von Schilddrü senhormontransportern

The importance of thyroid hormone transporters

D. Braun

¹Institut für Biochemie und Molekularbiologie, Rheinische Friedrich-Wilhelms Universität Bonn

› Institutsangaben

Abstract

Zusammenfassung

William Allan, Nash Herndon und Florence Dudley publizierten 1944 Beobachtungen zu einem vererbbaren Syndrom, das sich durch Muskelschwä che, mentale Retardierung (Intelligenzquotient < 30) und Entwicklungsverzö gerungen auszeichnete. Die mä nnlichen Patienten waren unfä hig, ihren Kopf zu halten, hatten Sprachdefizite und konnten meist weder sitzen noch gehen. Inzwischen ist bekannt, dass das Allan-Herndon-Dudley- Syndrom (AHDS) nach dem fragilen X-Syndrom die zweite beschriebene X-chromosomal vererbte Krankheit ist.

Als diagnostisches Kriterium ist inzwischen eine bestimmte Schilddrü senhormonkonstellation hinzugekommen. Die Krankheit ist mit Mutationen im X-chromosomal lokalisierten SLC16A2 Gens assoziiert. SLC16A2 kodiert für einen spezifischen Plasmamembran- Schilddrü senhormon-Transporter, den Monocarboxylattransporter 8 (MCT8)

Summary

Symptoms of a newly discovered X-chromosomal severe mental retardation disease were published by William Allan, Nash Herndon and Florence Dudley in 1944. Patients suffered from muscle weakness and a developmental delay not able to sit, walk and speak. In addition, they showed an endocrinological phenotype with abnormal thyroid hormone constellations.

The reason for the Allan-Herndon-Dudley syndrome was found in a mutation of the monocarboxylate transporter 8 (MCT8, SLC16A2), a specific thyroid hormone transporter.

Schlüsselwörter

Allan-Herndon-Dudley-Syndrom

Keywords

Allan-Herndon-Dudley syndrome

Volltext

Referenzen

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