Changes in sterol and phospholipid fatty acid composition in Refsum's disease fibroblasts grown in the presence of phytol.

Fibroblasts derived from an individual with Refsum's disease (GM 3896) and a normal control (GM 1717) were grown in the presence of 0, 0.1, 0.2, and 0.3 mM phytol. Cultures were analyzed for total sterol content, and the fatty acid composition of the extractable phospholipids. The fatty acid composition of the phospholipids are similar for control and Refsum's disease fibroblasts when grown on media lacking phytol. However, the addition of phytol to the growth medium produces differences in fatty acid composition between the phospholipids extracted from control and Refsum's disease cells. With regard to sterol composition, data are presented which suggest that an altered sterol is induced in Refsum's disease fibroblasts by the presence of phytol in the growth medium. The possible relationship of these findings to the mechanism of Refsum's disease is discussed.