Reduced expression of neuropeptides can be related to respiratory disturbances in Rett syndrome

Brain Dev. 2001 Dec:23 Suppl 1:S122-6. doi: 10.1016/s0387-7604(01)00358-8.

Abstract

We immunohistochemically examined neurotransmitter systems, which function in the brainstem and are involved in neuronal organization of respiration, in an autopsy brain from a patient with Rett syndrome (RS). Immunoreactivity (IR) for tyrosine hydroxylase, a functional marker for catecholaminergic neurons, was severely reduced in the locus ceruleus, while that for tryptophan hydroxylase involved in serotonin synthesis was spared in the raphe nuclei. In the brainstem, IR for substance P (SP) was reduced in the parabrachial complex and that for methionine-enkephalin (met-enk) was affected in the parabrachial, hypoglossal, dorsal vagal and solitary nuclei. In addition, expressions of these neuropeptides were also disturbed in the basal ganglia. A widespread altered expression of antagonistic neuropeptides, SP and met-enk, may be involved in the pathogenesis of RS, especially in its respiratory manifestation.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Basal Ganglia / metabolism*
  • Basal Ganglia / pathology
  • Basal Ganglia / physiopathology
  • Brain Stem / enzymology*
  • Brain Stem / pathology
  • Brain Stem / physiopathology
  • Catecholamines / biosynthesis
  • Down-Regulation / genetics*
  • Enkephalin, Methionine / deficiency
  • Enkephalin, Methionine / genetics
  • Enzymes / deficiency
  • Enzymes / genetics
  • Female
  • Humans
  • Immunohistochemistry
  • Locus Coeruleus / enzymology
  • Locus Coeruleus / pathology
  • Locus Coeruleus / physiopathology
  • Neuropeptides / deficiency*
  • Neuropeptides / genetics
  • Neurotransmitter Agents / deficiency*
  • Neurotransmitter Agents / genetics
  • Raphe Nuclei / enzymology
  • Raphe Nuclei / pathology
  • Raphe Nuclei / physiopathology
  • Respiration Disorders / enzymology*
  • Respiration Disorders / etiology
  • Respiration Disorders / pathology
  • Rett Syndrome / enzymology*
  • Rett Syndrome / pathology
  • Rett Syndrome / physiopathology
  • Serotonin / biosynthesis
  • Substance P / deficiency
  • Substance P / genetics
  • Tryptophan Hydroxylase / drug effects
  • Tryptophan Hydroxylase / genetics
  • Tyrosine 3-Monooxygenase / drug effects
  • Tyrosine 3-Monooxygenase / genetics

Substances

  • Catecholamines
  • Enzymes
  • Neuropeptides
  • Neurotransmitter Agents
  • Serotonin
  • Substance P
  • Enkephalin, Methionine
  • Tyrosine 3-Monooxygenase
  • Tryptophan Hydroxylase