Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1

Hum Mol Genet. 2006 Jan 15;15(2):167-87. doi: 10.1093/hmg/ddi446. Epub 2005 Dec 8.

Abstract

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an infantile autosomal-recessive motor neuron disease caused by mutations in the immunoglobulin micro-binding protein 2. We investigated the potential of a spinal cord neural stem cell population isolated on the basis of aldehyde dehydrogenase (ALDH) activity to modify disease progression of nmd mice, an animal model of SMARD1. ALDH(hi)SSC(lo) stem cells are self-renewing and multipotent and when intrathecally transplanted in nmd mice generate motor neurons properly localized in the spinal cord ventral horns. Transplanted nmd animals presented delayed disease progression, sparing of motor neurons and ventral root axons and increased lifespan. To further investigate the molecular events responsible for these differences, microarray and real-time reverse transcription-polymerase chain reaction analyses of wild-type, mutated and transplanted nmd spinal cord were undertaken. We demonstrated a down-regulation of genes involved in excitatory amino acid toxicity and oxidative stress handling, as well as an up-regulation of genes related to the chromatin organization in nmd compared with wild-type mice, suggesting that they may play a role in SMARD1 pathogenesis. Spinal cord of nmd-transplanted mice expressed high transcript levels for genes related to neurogenesis such as doublecortin (DCX), LIS1 and drebrin. The presence of DCX-expressing cells in adult nmd spinal cord suggests that both exogenous and endogenous neurogeneses may contribute to the observed nmd phenotype amelioration.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Aldehyde Dehydrogenase / metabolism
  • Animals
  • Blotting, Western
  • Cells, Cultured
  • Disease Progression
  • Doublecortin Domain Proteins
  • Doublecortin Protein
  • Gene Expression Regulation*
  • Immunohistochemistry
  • Mice
  • Mice, Mutant Strains
  • Microarray Analysis
  • Microtubule-Associated Proteins / metabolism
  • Motor Neurons / cytology*
  • Neuropeptides / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spinal Cord / cytology
  • Spinal Cord / metabolism*
  • Spinal Muscular Atrophies of Childhood / physiopathology*
  • Stem Cell Transplantation*
  • Stem Cells / cytology
  • Stem Cells / metabolism*
  • Survival Analysis

Substances

  • Dcx protein, mouse
  • Doublecortin Domain Proteins
  • Doublecortin Protein
  • Microtubule-Associated Proteins
  • Neuropeptides
  • drebrins
  • Aldehyde Dehydrogenase
  • 1-Alkyl-2-acetylglycerophosphocholine Esterase
  • Pafah1b1 protein, mouse