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Necdin Gene, Respiratory Disturbances and Prader-Willi Syndrome

  • Sébastien Zanella
  • Magali Barthelemy
  • Françoise Muscatelli
  • Gérard Hilaire
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 605)

Prader-Willi Syndrome (PWS) is a complex neurogenetic disease with various symptoms, including breathing deficits and possible alteration of serotonin (5HT) metabolism. As PWS results from the absence of paternal expression of several imprinted genes among which NECDIN (Ndn), we examined whether Ndn deficiency in mice induced breathing and 5HT deficits. In vivo, Ndn-deficient mice (Ndn-/-) had irregular breathing, severe apneas and blunted respiratory response to hypoxia. In vitro, medullary preparations from Ndn-/- neonates produced a respiratory-like rhythm that was highly irregular, frequently interrupted and abnormally regulated by central hypoxia. In wild type (wt) and Ndn-/- neonates, immunohistofluorescence and biochemistry revealed that medullary 5HT neurons expressed Ndn in wt and that the medulla contained abnormally high levels of 5HT in Ndn-/-. Thus, our preliminary results fully confirm a primary role of Ndn in PWS, revealing that Ndn-deficiency in mice induces respiratory and 5HT alterations reminiscent of PWS.

Keywords

High Performance Liquid Chromatography Imprint Gene Prader Willi Syndrome Central Hypoxia Irregular Breathing 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer 2008

Authors and Affiliations

  • Sébastien Zanella
    • 1
  • Magali Barthelemy
    • 1
  • Françoise Muscatelli
    • 2
  • Gérard Hilaire
    • 1
  1. 1.CNRS, UMR 6153MarseilleFrance
  2. 2.CNRS, UMR 6216, Institut Biologie du Développement de MarseilleLuminy, Marseille CEDEX9France

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