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Essential fatty acid deficiency in relation to genotype in patients with cystic fibrosis

B Strandvik1, E Gronowitz, F Enlund

  • 1Department of Pediatrics and Clinical Genetics, Faculty of Medicine, Göteborg University, Göteborg, Sweden.

The Journal of Pediatrics
|November 20, 2001
PubMed

Insights

Patients with cystic fibrosis (CF) have lower levels of essential fatty acids, linoleic acid and docosahexaenoic acid, in their serum phospholipids. These lower levels are linked to specific cystic fibrosis transmembrane conductance regulator gene mutations.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
  • Essential fatty acid metabolism may be altered in CF patients.
  • The relationship between CF genotypes and fatty acid profiles is not well understood.

Purpose of the Study:

  • To investigate the association between serum phospholipid fatty acid patterns and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.
  • To compare fatty acid profiles in CF patients with those in healthy controls.

Main Methods:

  • Serum phospholipid fatty acids were analyzed using gas-liquid chromatography in 110 CF patients.
  • CFTR mutations were identified using standard genetic methods.
  • Statistical analysis compared fatty acid levels between CF patients and controls, and among different CFTR mutation groups.

Main Results:

  • CF patients exhibited significantly lower serum concentrations of linoleic acid and docosahexaenoic acid compared to healthy controls.
  • Palmitoleic and oleic acids were significantly increased in CF patients.
  • Specific CFTR mutations (DeltaF508 homozygotes, 394delTT heterozygotes/homozygotes) were associated with the lowest levels of linoleic and docosahexaenoic acids.

Conclusions:

  • Patients with severe CFTR mutations show reduced serum linoleic and docosahexaenoic acid levels.
  • This suggests a link between the fundamental defect in CF and impaired essential fatty acid metabolism.
  • Fatty acid alterations in CF appear to be genotype-dependent.
Abstract

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