Substance P immunoreactivity in the enteric nervous system in Rett syndrome

Brain Dev. 2001 Dec;23 Suppl 1:S127-32. doi: 10.1016/s0387-7604(01)00360-6.


Rett syndrome is associated with profound mental retardation and motor disability in girls. It has a characteristic clinical phenotype which includes abnormalities of the autonomic nervous system. Feeding impairment and severe constipation are two symptoms of this autonomic dysfunction. Substance P, an important peptide in the autonomic nervous system, is decreased in the cerebrospinal fluid of Rett syndrome. We have demonstrated that substance P immunoreactivity is significantly decreased in Rett syndrome brain-stem and may be related to the autonomic dysfunction. In this study, we have continued the investigation of substance P in the enteric nervous system. We immunohistochemically examined the normal developing bowel in 22 controls (ages, 14 gestational weeks to 31 years) using formalin fixed tissue, with antibodies to substance P, tyrosine hydroxylase and vasoactive intestinal peptide. We compared the immunoreactivity of normal controls with 14 cases of Rett syndrome (ages, 5-41 years) and observed that the expression of substance P, tyrosine hydroxylase and vasoactive intestinal peptide immunoreactivity in the bowel in Rett syndrome was not significantly different from that of controls. This suggests that the feeding impairment and constipation in Rett syndrome relate to dysfunction of the autonomic nervous system originating outside of the bowel, in the brain-stem, as suggested by our previous study.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aging / metabolism
  • Catecholamines / genetics
  • Catecholamines / metabolism
  • Child
  • Child, Preschool
  • Digestive System / innervation*
  • Digestive System / physiopathology
  • Enteric Nervous System / metabolism*
  • Enteric Nervous System / pathology
  • Enteric Nervous System / physiopathology
  • Female
  • Gastrointestinal Diseases / etiology
  • Gastrointestinal Diseases / metabolism*
  • Gastrointestinal Diseases / pathology
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Neurons / metabolism
  • Neurons / pathology
  • Rett Syndrome / metabolism*
  • Rett Syndrome / pathology
  • Rett Syndrome / physiopathology
  • Substance P / genetics
  • Substance P / metabolism*
  • Sympathetic Fibers, Postganglionic / metabolism
  • Sympathetic Fibers, Postganglionic / pathology
  • Tyrosine 3-Monooxygenase / genetics
  • Tyrosine 3-Monooxygenase / metabolism
  • Vasoactive Intestinal Peptide / metabolism


  • Catecholamines
  • Substance P
  • Vasoactive Intestinal Peptide
  • Tyrosine 3-Monooxygenase