Enhanced accumulation of hyaluronate in the culture of skin fibroblasts from two patients with Coffin-Lowry syndrome.

Cultured skin fibroblasts were prepared from two unrelated adult patients with full expressions of Coffin-Lowry syndrome. Glycosaminoglycans (GAGs) were isolated either from the medium or from the cell layer of cultured skin fibroblasts. Two-dimensional electrophoresis of GAG preparations on cellulose acetate film revealed that hyaluronate was the major component both in the medium and in the cell layer. Quantitative analysis of GAGs was carried out by measuring optical density at 615 nm of Alcian blue-stained GAG spots on electrophoretograms. Increase in the hyaluronate content was found both in the culture medium and in the cell layer of Coffin-Lowry fibroblasts. In addition, the incorporation of [14C]glucosamine into hyaluronate was similarly activated in skin fibroblasts from patients, suggesting the active biosynthesis and or the suppressed degradation of hyaluronate by cultured skin fibroblasts from Coffin-Lowry syndrome. The abnormal metabolism of hyaluronate in Coffin-Lowry fibroblasts may be implicated in some of the clinical aspects of this genetic disorder.