Vaso-occlusion in Schimke-immuno-osseous dysplasia: Is the NO pathway involved?

Thomas Lücke, D. Tsikas, N. K. Kanzelmeyer, C. F. Boerkoel, Johanna Marietta Clewing, B. Vaske, J. H.H. Ehrich, A. M. Das

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Schimke-immuno-osseous dysplasia (SIOD) is an autosomal recessive disorder with the main clinical findings of spondyloepiphyseal dysplasia, nephrotic syndrome, and defective cellular immunity. Vaso-occlusive processes, especially generalized atherosclerosis, are a life-limiting complication in patients with severe SIOD. The nitric oxide synthase (NOS) oxidizes L-arginine to nitric oxide (NO). NO is a potent vasodilator with inhibitory effects on platelet aggregation and the development of atherosclerosis. We hypothesized that reduced NO production due to antagonism of NOS by asymmetric dimethylarginine (ADMA) would be a possible pathophysiological mechanism for vaso-occlusion in SIOD. We tested this hypothesis in 10 patients with SIOD and 10 age-matched healthy controls. Plasma and urine levels of nitrite and nitrate, the indicators of NO synthesis, and of ADMA, an endogenous NOS inhibitor, in children suffering from SIOD were not significantly different from those in the age-matched healthy controls. Our results suggest that the L-arginine/NO pathway is not altered in SIOD. Antagonism of NOS by ADMA does not seem to be the cause of premature general atherosclerosis in SIOD. The underlying pathology of vaso-occlusion in SIOD still remains unclear.

Original languageEnglish (US)
Pages (from-to)678-682
Number of pages5
JournalHormone and Metabolic Research
Volume38
Issue number10
DOIs
StatePublished - Oct 1 2006

Keywords

  • Asymmetric dimethylarginine
  • Atherosclerosis
  • Mass spectrometry
  • Nitrate
  • Nitrite
  • Vascular dysfunction
  • Vaso-occlusive disease

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology

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