Influence of plasma phytanic acid levels in Refsum's disease on the behaviour of the erythrocyte membrane sodium-lithium countertransporter

Eur J Clin Invest. 1998 Apr;28(4):334-8. doi: 10.1046/j.1365-2362.1998.00291.x.

Abstract

Background: Abnormal behaviour of the erythrocyte membrane sodium-lithium countertransporter (SLC) is associated with plasma triglyceride concentrations. Refsum's disease is characterized by progressive neurological dysfunction and accumulation of phytanic acid, an isoprenoid fatty acid, in fat-containing tissues.

Methods: This study explored the effects of plasma phytanic acid on SLC kinetics in nine Caucasian patients with Refsum's disease and in age- and sex-matched Caucasian control subjects.

Results: A dose-dependent association was seen between countertransporter maximal velocity and phytanic acid content of low-density lipoprotein (LDL)-cholesterol (r = -0.61, r = -0.65 respectively; P = 0.05, P = 0.04) and high-density lipoprotein (HDL)-cholesterol (r = -0.81, -0.82 respectively; P = 0.005, P = 0.003). No significant association was seen with the sodium affinity of the transporter (r = -0.44, P = 0.20, for LDL; and -0.43, P = 0.21, for high-density lipoprotein).

Conclusion: These findings suggest that phytanic acid may alter the behaviour of the sodium-lithium countertransporter.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antiporters / blood*
  • Apolipoprotein A-I / blood
  • Apolipoprotein A-II / blood
  • Apolipoproteins B / blood
  • Cholesterol, HDL / blood
  • Cholesterol, LDL / blood
  • Erythrocyte Membrane / metabolism*
  • Fatty Acids, Nonesterified / blood
  • Female
  • Humans
  • Kinetics
  • Lipoproteins / blood*
  • Lithium / blood
  • Male
  • Phytanic Acid / blood*
  • Reference Values
  • Refsum Disease / blood*
  • Regression Analysis
  • Sodium / blood
  • Triglycerides / blood

Substances

  • Antiporters
  • Apolipoprotein A-I
  • Apolipoprotein A-II
  • Apolipoproteins B
  • Cholesterol, HDL
  • Cholesterol, LDL
  • Fatty Acids, Nonesterified
  • Lipoproteins
  • Triglycerides
  • sodium-lithium countertransporter
  • Phytanic Acid
  • Lithium
  • Sodium