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Plasma Ceramides and Sphingomyelins of Pediatric Patients Increase in Primary Ciliary Dyskinesia but Decrease in

Dilara Bal Topçu1, Gokcen Tugcu2, Filiz Ozcan3

  • 1Department of Medical Biochemistry, Faculty of Medicine, Hacettepe University, Ankara, Sıhhıye, 06100, Turkey.

Lipids
|March 3, 2020
PubMed

Insights

This study reveals distinct plasma sphingolipid profiles in pediatric cystic fibrosis (CF) and primary ciliary dyskinesia (PCD) patients. Sphingomyelin (CerPCho) and ceramide (Cer) levels differ significantly between CF and PCD, suggesting altered sphingolipid metabolism in these conditions.

Area of Science:

  • Biochemistry
  • Pediatric Medicine
  • Genetics

Background:

  • Cystic Fibrosis (CF) and Primary Ciliary Dyskinesia (PCD) are distinct pediatric respiratory diseases.
  • Sphingolipids, including sphingomyelin (CerPCho) and ceramide (Cer), play crucial roles in cellular function.
  • Altered sphingolipid metabolism is implicated in various diseases, but its role in CF and PCD is not well-defined.

Purpose of the Study:

  • To investigate and compare plasma sphingomyelin (CerPCho) and ceramide (Cer) levels in pediatric patients with CF and PCD.
  • To assess these levels during different clinical states (exacerbation, discharge, stable periods).
  • To establish baseline sphingolipid profiles for these conditions and compare them to healthy controls.

Main Methods:

  • Plasma samples were collected from pediatric patients with CF (n=19) and PCD (n=7), along with healthy controls (n=17).
  • Sphingomyelin (CerPCho) and ceramide (Cer) species (16-24 carbons) were quantified using Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).
  • Levels were analyzed across exacerbation, discharge, and stable periods within each group and compared between groups.

Main Results:

  • Plasma CerPCho and Cer levels were significantly lower in CF patients compared to PCD patients during exacerbation.
  • CF patients exhibited significantly lower levels of multiple CerPCho and Cer species compared to healthy children across all clinical states.
  • PCD patients generally showed significantly higher CerPCho and Cer levels than healthy children, with specific exceptions.
  • No significant differences in Cer and CerPCho levels were observed across exacerbation, discharge, and stable periods within each disease group.

Conclusions:

  • This study is the first to report plasma Cer and CerPCho levels in PCD and adds to the limited data in CF.
  • Significant differences in plasma sphingolipid profiles between CF and PCD suggest divergent impacts on sphingolipid metabolism.
  • CFTR mutations in CF and cilia pathology in PCD may influence sphingolipid metabolism in opposing directions.

Keywords:
CeramideCystic fibrosisInflammationPrimary ciliary dyskinesiaSphingolipidSphingomyelin

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