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Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease.

Publication ,  Journal Article
Young, SP; Johnson, AW; Muller, DP
Published in: Clin Sci (Lond)
December 2001

Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter membrane composition and structure, thereby affecting membrane function(s). The anti-metabolite hypothesis suggests that an accumulation of phytanic acid in membranes may interfere with vitamin E function. These two hypotheses were investigated by studying the effects of modulating phytanic acid and alpha-tocopherol concentrations on the fatty acid composition and certain physical parameters of cultured retinal cells. Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity, (c) there was no competition for uptake between phytanic acid and alpha-tocopherol, and (d) the incorporation of phytanic acid did not increase the susceptibility of membranes to lipid peroxidation in vitro. These results obtained with cultured retinal cells suggest that the molecular distortion hypothesis, but not the anti-metabolite hypothesis, could explain the pathogenesis of adult Refsum disease. In vitro tissue culture models can, however, only approximate to the much more complex situation that occurs in vivo.

Duke Scholars

Published In

Clin Sci (Lond)

ISSN

0143-5221

Publication Date

December 2001

Volume

101

Issue

6

Start / End Page

697 / 705

Location

England

Related Subject Headings

  • alpha-Tocopherol
  • Tumor Cells, Cultured
  • Retinoblastoma
  • Retinal Neoplasms
  • Retina
  • Refsum Disease
  • Rats
  • Phytanic Acid
  • Phospholipids
  • Models, Biological
 
Journal cover image

Published In

Clin Sci (Lond)

ISSN

0143-5221

Publication Date

December 2001

Volume

101

Issue

6

Start / End Page

697 / 705

Location

England

Related Subject Headings

  • alpha-Tocopherol
  • Tumor Cells, Cultured
  • Retinoblastoma
  • Retinal Neoplasms
  • Retina
  • Refsum Disease
  • Rats
  • Phytanic Acid
  • Phospholipids
  • Models, Biological