Abolishing Trp53-dependent apoptosis does not benefit spinal muscular atrophy model mice

Eur J Hum Genet. 2006 Mar;14(3):372-5. doi: 10.1038/sj.ejhg.5201556.

Abstract

Spinal muscular atrophy (SMA) is the most common genetic motoneuron degenerative disorder, but the mechanism(s) of motoneuron death is unclear. Previously, a direct interaction between tumor-suppressive TP53 protein and the SMA determinant gene product, survival motor neuron protein, was identified and therefore it has been suggested that a mechanism of TP53-dependent apoptosis plays an important role in motoneuron degeneration in SMA. We used our SMA model mice, generated by a combination of knockout and transgenic techniques, to decipher the role of TP53 protein in the motoneuron degeneration in SMA. We detected a significant increase of Trp53 expression in the spinal cord of SMA-like mice compared to their normal littermates. After crossing SMA-like mice with Trp53 knockout mice, the progeny Trp53-deficient SMA-like mice did not show milder disease severity or longer lifespan compared to SMA littermates with wild-type Trp53 genes. Our studies provide in vivo evidence indicating that Trp53-dependent apoptosis does not play a crucial role in motoneuron degeneration in SMA-like mice. European Journal of Human Genetics (2006) 14, 372-375. doi:10.1038/sj.ejhg.5201556; published online 4 January 2006.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Apoptosis*
  • Disease Models, Animal
  • Gene Expression Regulation
  • Genes, p53*
  • Genotype
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Motor Neurons / pathology
  • Muscular Atrophy, Spinal / genetics*
  • Neurodegenerative Diseases / pathology
  • Phenotype
  • Spinal Cord / metabolism
  • Time Factors
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor Protein p53 / physiology*

Substances

  • Tumor Suppressor Protein p53