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Krude, H.* ; Biebermann, H.* ; Schuelke, M.* ; Müller, T.D. ; Tschöp, M.H.

Allan-herndon-dudley-syndrome: Considerations about the brain phenotype with implications for treatment strategies.

Exp. Clin. Endocrinol. Diabet. 128, 414-422 (2020)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the SLC16A2 gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from neurodevelopmental delay, as well as extrapyramidal ( dystonia, chorea, athetosis), pyramidal (spasticity), and cerebellar symptoms (ataxia). This suggests an affection of the pyramidal tracts, basal ganglia, and cerebellum, most likely already during fetal brain development. The function of other brain areas relevant for mood, behavior, and vigilance seems to be intact. An optimal treatment strategy should thus aim to deliver T3 to these relevant structures at the correct time points during development. A potential therapeutic strategy meeting these needs might be the delivery of T3 via a "Trojan horse mechanism" by which T3 is delivered into target cells by a thyroid hormone transporter independent T3 internalization.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Thyroid Hormone Transporter ; Allan-herndon-dudley-syndrome ; Pathophysiology; Monocarboxylate Transporter 8; Triiodothyroacetic Acid; Mct8; Gene; Mutations; Deficiency; Hypothyroidism; Dysfunction; Metabolism; Thyroxine
ISSN (print) / ISBN 0947-7349
e-ISSN 1439-3646
Zeitschrift Experimental and Clinical Endocrinology & Diabetes
Quellenangaben Band: 128, Heft: 6-7, Seiten: 414-422 Artikelnummer: , Supplement: ,
Verlag Thieme
Verlagsort Stuttgart
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Diabetes and Obesity (IDO)