Ganglioside accumulation in cultured skin fibroblasts from gangliosidosis patients

Abstract

At late confluency (21 days after passage), cultured skin fibroblasts from G M1 gangliosidosis, type 1 patients showed approximately a 15-fold increase in G M1 ganglioside, and fibroblasts from Tay-Sachs and Sandhoff disease patients showed a 50- and 30-fold increase in G M2 ganglioside, respectively, when compared to normal fibroblasts. Since demonstration of storage material is important for accurate diagnosis of the lysosomal storage disorders, analysis of the accumulating lipids in late confluency fibroblasts can provide an additional tool for the diagnosis of the gangliosidoses and possibly other lysosomal disorders.