Genetic and Neurological Deficiencies in the Visual System of mct8 Mutant Zebrafish

Int J Mol Sci. 2022 Feb 23;23(5):2464. doi: 10.3390/ijms23052464.

Abstract

Thyroid hormones (THs; T3 and T4) enter cells using specific transporters and regulate development and metabolism. Mutation in the TH transporter monocarboxylate transporter 8 (MCT8, SLC16A2) is associated with brain hypothyroidism and neurological impairment. We established mct8 mutant (mct8-/-) zebrafish as a model for MCT8 deficiency, which causes endocrinological, neurological, and behavioral alterations. Here, we profiled the transcriptome of mct8-/- larvae. Among hundreds of differentially expressed genes, the expression of a cluster of vision-related genes was distinct. Specifically, the expression of the opsin 1 medium wave sensitive 2 (opn1mw2) decreased in two mct8 mutants: mct8-/- and mct8-25bp-/- larvae, and under pharmacological inhibition of TH production. Optokinetic reflex (OKR) assays showed a reduction in the number of conjugated eye movements, and live imaging of genetically encoded Ca2+ indicator revealed altered neuronal activity in the pretectum area of mct8-25bp-/- larvae. These results imply that MCT8 and THs regulate the development of the visual system and suggest a mechanism to the deficiencies observed in the visual system of MCT8-deficiency patients.

Keywords: OKR; monocarboxylate transporter 8; opsin; pretectum; thyroid hormones; zebrafish.

MeSH terms

  • Animals
  • Brain / metabolism
  • Humans
  • Hypothyroidism* / metabolism
  • Monocarboxylic Acid Transporters / genetics
  • Monocarboxylic Acid Transporters / metabolism
  • Symporters* / genetics
  • Symporters* / metabolism
  • Thyroid Hormones / genetics
  • Thyroid Hormones / metabolism
  • Zebrafish / genetics
  • Zebrafish / metabolism

Substances

  • Monocarboxylic Acid Transporters
  • SLC16A2 protein, human
  • Symporters
  • Thyroid Hormones