Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b

Am J Physiol Regul Integr Comp Physiol. 2006 Jun;290(6):R1691-6. doi: 10.1152/ajpregu.00875.2005. Epub 2006 Jan 12.

Abstract

Heterozygous mutations of the transcription factor PHOX2B have been found in most patients with central congenital hypoventilation syndrome, a rare disease characterized by sleep-related hypoventilation and impaired chemosensitivity to sustained hypercapnia and sustained hypoxia. PHOX2B is a master regulator of autonomic reflex pathways, including peripheral chemosensitive pathways. In the present study, we used hyperoxic tests to assess the strength of the peripheral chemoreceptor tonic drive in Phox2b+/-newborn mice. We exposed 69 wild-type and 67 mutant mice to two hyperoxic tests (12-min air followed by 3-min 100% O2) 2 days after birth. Breathing variables were measured noninvasively using whole body flow plethysmography. The initial minute ventilation decrease was larger in mutant pups than in wild-type pups: -37% (SD 13) and -25% (SD 18), respectively, P<0.0001. Furthermore, minute ventilation remained depressed throughout O2 exposure in mutants, possibly because of their previously reported impaired CO2 chemosensitivity, whereas it returned rapidly to the normoxic level in wild-type pups. Hyperoxia considerably increased total apnea duration in mutant compared with wild-type pups (P=0.0001). A complementary experiment established that body temperature was not influenced by hyperoxia in either genotype group and, therefore, did not account for genotype-related differences in the hyperoxic ventilatory response. Thus partial loss of Phox2b function by heterozygosity did not diminish the tonic drive from peripheral chemoreceptors.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Animals, Newborn
  • Apnea / genetics
  • Apnea / physiopathology
  • Body Temperature / genetics
  • Body Temperature / physiology
  • Female
  • Heterozygote
  • Homeodomain Proteins / genetics*
  • Hyperoxia / physiopathology*
  • Male
  • Mice
  • Mice, Mutant Strains
  • Plethysmography, Whole Body
  • Pulmonary Ventilation / genetics
  • Pulmonary Ventilation / physiology*
  • Tidal Volume / genetics
  • Tidal Volume / physiology
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • NBPhox protein
  • Transcription Factors