Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

Acta Neuropathol. 2010 Apr;119(4):409-19. doi: 10.1007/s00401-010-0659-0. Epub 2010 Mar 3.

Abstract

Abnormal TDP-43 aggregation is a prominent feature in the neuropathology of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. Mutations in TARDBP, the gene encoding TDP-43, cause some cases of ALS. The normal function of TDP-43 remains incompletely understood. To better understand TDP-43 biology, we generated mutant mice carrying a genetrap disruption of Tardbp. Mice homozygous for loss of TDP-43 are not viable. TDP-43 deficient embryos die about day 7.5 of embryonic development thereby demonstrating that TDP-43 protein is essential for normal prenatal development and survival. However, heterozygous Tardbp mutant mice exhibit signs of motor disturbance and muscle weakness. Compared with wild type control littermates, Tardbp (+/-) animals have significantly decreased forelimb grip strength and display deficits in a standard inverted grid test despite no evidence of pathologic changes in motor neurons. Thus, TDP-43 is essential for viability, and mild reduction in TDP-43 function is sufficient to cause motor deficits without degeneration of motor neurons.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Amyotrophic Lateral Sclerosis / genetics
  • Amyotrophic Lateral Sclerosis / pathology
  • Animals
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Embryonic Development / physiology
  • Forelimb / metabolism
  • Hand Strength
  • Heterozygote
  • Mice
  • Mice, Inbred C57BL
  • Motor Activity / genetics*
  • Motor Neurons / metabolism*
  • Motor Neurons / pathology
  • Muscle, Skeletal / embryology
  • Muscle, Skeletal / metabolism*
  • Mutation

Substances

  • DNA-Binding Proteins