Acidic glycosaminoglycans and gangliosides in the brains from four patients with genetic mucopolysaccharidosis.
Acidic glycosaminoglycans (GAGs) and gangliosides were analyzed in the brains from control fetuses, fetal Hurler syndrome, control children and three patients affected by genetic mucopolysaccharidosis (Hurler, Hunter and Morquio syndromes). GAGs contents in the brains from patients with Hurler and Hunter syndromes were approximately 1.5-3.0-fold greater as compared with those controls, and most of the GAGs were much more degraded than those from controls. Dermatan sulfate (DS), which was not identified in the control brains, comprised about 20--40% of the total GAGs. On the other hand, GAGs content and molecular weight distribution in the brain from the patient affected by Morquio syndrome were similar to those in the control brains. GAGs content in the brain from fetal Hurler syndrome was also 2.0-fold greater and DS, which was not detected in the control fetal brains, comprised 1.6% of the total GAGs. However, the molecular weight distribution of the GAGs was similar to those of the control fetal brains. The total amount of the brain gangliosides in all patients assayed here was similar to those in the control brains. However, a greater amount of GM1- and Gm2-gangliosides was observed in the brains from patients with Hurler and Hunter syndromes.
D000293:Adolescent; D001921:Brain / Q000196:embryology; D001923:Brain Chemistry; D002648:Child; D002675:Child, Preschool; D003871:Dermatan Sulfate / Q000032:analysis; D005333:Fetus; D005732:Gangliosides / Q000032:analysis*; D006025:Glycosaminoglycans / Q000032:analysis*; D006801:Humans; D007223:Infant; D007632:Keratan Sulfate / Q000032:analysis; D008059:Mucopolysaccharidosis I / Q000235:genetics / Q000378:metabolism*; D016532:Mucopolysaccharidosis II / Q000235:genetics / Q000378:metabolism*; D009085:Mucopolysaccharidosis IV / Q000235:genetics / Q000378:metabolism*
D005732:Gangliosides; D006025:Glycosaminoglycans; D003871:Dermatan Sulfate; D007632:Keratan Sulfate