Aromatic L-amino acid decarboxylase (AADC) is crucial for brain development and motor functions

PLoS One. 2013 Aug 5;8(8):e71741. doi: 10.1371/journal.pone.0071741. Print 2013.

Abstract

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare pediatric neuro-metabolic disease in children. Due to the lack of an animal model, its pathogenetic mechanism is poorly understood. To study the role of AADC in brain development, a zebrafish model of AADC deficiency was generated. We identified an aadc gene homolog, dopa decarboxylase (ddc), in the zebrafish genome. Whole-mount in situ hybridization analysis showed that the ddc gene is expressed in the epiphysis, locus caeruleus, diencephalic catecholaminergic clusters, and raphe nuclei of 36-h post-fertilization (hpf) zebrafish embryos. Inhibition of Ddc by AADC inhibitor NSD-1015 or anti-sense morpholino oligonucleotides (MO) reduced brain volume and body length. We observed increased brain cell apoptosis and loss of dipencephalic catecholaminergic cluster neurons in ddc morphants (ddc MO-injected embryos). Seizure-like activity was also detected in ddc morphants in a dose-dependent manner. ddc morphants had less sensitive touch response and impaired swimming activity that could be rescued by injection of ddc plasmids. In addition, eye movement was also significantly impaired in ddc morphants. Collectively, loss of Ddc appears to result in similar phenotypes as that of ADCC deficiency, thus zebrafish could be a good model for investigating pathogenetic mechanisms of AADC deficiency in children.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Animals, Genetically Modified
  • Aromatic-L-Amino-Acid Decarboxylases / genetics
  • Aromatic-L-Amino-Acid Decarboxylases / physiology*
  • Brain / embryology*
  • Embryo, Nonmammalian
  • Embryonic Development / genetics*
  • Molecular Sequence Data
  • Motor Activity / genetics*
  • Sequence Homology, Amino Acid
  • Zebrafish* / embryology
  • Zebrafish* / genetics

Substances

  • Aromatic-L-Amino-Acid Decarboxylases

Grants and funding

The work was supported by the National Science Council (NSC-98-2311-B-002-006-MY3) and National Taiwan University (NTU CESRP-10R70602A5 and NTU ERP-10R80600) to SJL and NSC-99-2314-B-002-011-MY3 to WJL. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.