Dolichol metabolism in cultured skin fibroblasts from patients with “neuronal” ceroid lipofuscinosis (Batten's disease)

Abstract

Dolichol metabolism was investigated in skin fibroblast cultures from normal individuals and patients with Batten's disease. Incorporation of [³H]mevalonolactone and [¹⁴C]acetate into the dolichol fraction of total lipid extracts was similar in cells from normal individuals and patients with Batten's disease. [¹⁴C]Acetate incorporation into dolichol in non-saponifiable lipid extracts was compared with incorporation into dolichol in total lipid extracts, and no difference in the proportion of dolichol esterified to fatty acids was found in Batten's cells as compared to normal cells. The rate of loss of radioactivity from the dolichol pool after prelabelling with [¹⁴C]acetate was also similar in cells from Batten's and normal individuals. Thus, in the fibroblast system used, no evidence was found to support the hypothesis that Batten's disease is due to a defect in dolichol metabolism.