Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):4986-91. doi: 10.1073/pnas.1218311110. Epub 2013 Mar 1.

Abstract

Mutations in the Tar DNA binding protein of 43 kDa (TDP-43; TARDBP) are associated with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43(+) inclusions (FTLD-TDP). To determine the physiological function of TDP-43, we knocked out zebrafish Tardbp and its paralogue Tardbp (TAR DNA binding protein-like), which lacks the glycine-rich domain where ALS- and FTLD-TDP-associated mutations cluster. tardbp mutants show no phenotype, a result of compensation by a unique splice variant of tardbpl that additionally contains a C-terminal elongation highly homologous to the glycine-rich domain of tardbp. Double-homozygous mutants of tardbp and tardbpl show muscle degeneration, strongly reduced blood circulation, mispatterning of vessels, impaired spinal motor neuron axon outgrowth, and early death. In double mutants the muscle-specific actin binding protein Filamin Ca is up-regulated. Strikingly, Filamin C is similarly increased in the frontal cortex of FTLD-TDP patients, suggesting aberrant expression in smooth muscle cells and TDP-43 loss-of-function as one underlying disease mechanism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / metabolism
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • Axons / metabolism*
  • Axons / pathology
  • Contractile Proteins / genetics
  • Contractile Proteins / metabolism
  • DNA-Binding Proteins*
  • Filamins
  • Humans
  • Microfilament Proteins / genetics
  • Microfilament Proteins / metabolism
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology
  • Muscular Atrophy / genetics
  • Muscular Atrophy / metabolism*
  • Muscular Atrophy / pathology
  • Mutation*
  • Protein Structure, Tertiary
  • Vascular Diseases / genetics
  • Vascular Diseases / metabolism*
  • Vascular Diseases / pathology
  • Zebrafish / metabolism*
  • Zebrafish Proteins / genetics
  • Zebrafish Proteins / metabolism*

Substances

  • Contractile Proteins
  • DNA-Binding Proteins
  • Filamins
  • Microfilament Proteins
  • Zebrafish Proteins