Zebrafish as a model for monocarboxyl transporter 8-deficiency

Gad David Vatine, David Zada, Tali Lerer-Goldshtein, Adi Tovin, Guy Malkinson, Karina Yaniv, Lior Appelbaum

Research output: Contribution to journalArticlepeer-review

59 Scopus citations


Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor retardation characterized by neurological impairment and abnormal thyroid hormone (TH) levels. Mutations in the TH transporter, monocarboxylate transporter 8 (MCT8), are associated with AHDS. MCT8 knock-out mice exhibit impaired TH levels; however, they lack neurological defects. Here, the zebrafish mct8 gene and promoter were isolated, and mct8 promoter-driven transgenic lines were used to show that, similar to humans, mct8 is primarily expressed in the nervous and vascular systems. Morpholino-based knockdown and rescue experiments revealed thatMCT8is strictly required for neural development in the brain and spinal cord. This study shows that MCT8 is a crucial regulator during embryonic development and establishes the first vertebrate model for MCT8 deficiency that exhibits a neurological phenotype.

Original languageEnglish
Pages (from-to)169-180
Number of pages12
JournalJournal of Biological Chemistry
Issue number1
StatePublished - 4 Jan 2013


Dive into the research topics of 'Zebrafish as a model for monocarboxyl transporter 8-deficiency'. Together they form a unique fingerprint.

Cite this