Studies of red cell stromal proteins in Tay-Sachs disease.
Hemoglobin-free red blood cell ghosts of nine patients with Tay-Sachs disease and 14 normal control subjects have been analyzed for content of total protein, hexosamines, individual amino acids, and sialic acid. Red cell ghosts from Tay-Sachs' children have been shown to contain significantly increased amounts of protein, hexosamine, threonine, and serine, and probably sialic acid, each of which was increased by approximately 25% over control values. These observations suggest that the red cell membrane in patients with Tay-Sachs disease contains a significant excess of a glycoprotein or proteins, as compared with normal, and that the metabolic defect in this disease, therefore, affects glycoproteins as well as complex lipids.
D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002462:Cell Membrane; D002675:Child, Preschool; D004912:Erythrocytes / Q000032:analysis*; D005260:Female; D006023:Glycoproteins / Q000032:analysis; D006595:Hexosamines / Q000032:analysis; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000097:blood*; D008074:Lipoproteins / Q000032:analysis; D008297:Male; D009438:Neuraminic Acids / Q000032:analysis; D011506:Proteins / Q000032:analysis*; D012694:Serine / Q000032:analysis; D013912:Threonine / Q000032:analysis
D000596:Amino Acids; D006023:Glycoproteins; D006595:Hexosamines; D008074:Lipoproteins; D009438:Neuraminic Acids; D011506:Proteins; D013912:Threonine; D012694:Serine