Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin

Am J Pathol. 2005 Jul;167(1):175-91. doi: 10.1016/S0002-9440(10)62964-1.

Abstract

Necdin (Ndn) is one of a cluster of genes deleted in the neurodevelopmental disorder Prader-Willi syndrome (PWS). Ndntm2Stw mutant mice die shortly after birth because of abnormal respiratory rhythmogenesis generated by a key medullary nucleus, the pre-Bötzinger complex (preBötC). Here, we address two fundamental issues relevant to its pathogenesis. First, we performed a detailed anatomical study of the developing medulla to determine whether there were defects within the preBötC or synaptic inputs that regulate respiratory rhythmogenesis. Second, in vitro studies determined if the unstable respiratory rhythm in Ndntm2Stw mice could be normalized by neuromodulators. Anatomical defects in Ndntm2Stw mice included defasciculation and irregular projections of axonal tracts, aberrant neuronal migration, and a major defect in the cytoarchitecture of the cuneate/gracile nuclei, including dystrophic axons. Exogenous application of neuromodulators alleviated the long periods of slow respiratory rhythms and apnea, but some instability of rhythmogenesis persisted. We conclude that deficiencies in the neuromodulatory drive necessary for preBötC function contribute to respiratory dysfunction of Ndntm2Stw mice. These abnormalities are part of a more widespread deficit in neuronal migration and the extension, arborization, and fasciculation of axons during early stages of central nervous system development that may account for respiratory, sensory, motor, and behavioral problems associated with PWS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Diaphragm / innervation
  • Disease Models, Animal
  • Female
  • Fetus
  • Immunohistochemistry
  • Mice
  • Mice, Neurologic Mutants
  • Microscopy, Confocal
  • Nerve Tissue Proteins / deficiency*
  • Nerve Tissue Proteins / genetics
  • Neurons / pathology*
  • Neurons / ultrastructure
  • Nuclear Proteins / deficiency*
  • Nuclear Proteins / genetics
  • Organ Culture Techniques
  • Prader-Willi Syndrome / genetics
  • Prader-Willi Syndrome / pathology
  • Prader-Willi Syndrome / physiopathology*
  • Pregnancy
  • Respiratory Center / abnormalities*
  • Respiratory Center / pathology*
  • Spinal Cord / abnormalities
  • Spinal Cord / ultrastructure

Substances

  • Nerve Tissue Proteins
  • Nuclear Proteins
  • necdin