Studies of red cell stromal proteins in Tay-Sachs disease.

Abstract

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.

• Authors: J A Balint, E C Kyriakides
• Journal: The Journal of clinical investigation (J Clin Invest) Vol. 47 Issue 8 Pg. 1858-64 (Aug 1968) ISSN: 0021-9738 [Print] United States
• PMID: 5666115 (Publication Type: Journal Article)

Chemical References

• Amino Acids
• Glycoproteins
• Hexosamines
• Lipoproteins
• Neuraminic Acids
• Proteins
• Threonine
• Serine

Topics

• Adolescent
• Adult
• Amino Acids (analysis)
• Cell Membrane
• Child, Preschool
• Erythrocytes (analysis)
• Female
• Glycoproteins (analysis)
• Hexosamines (analysis)
• Humans
• Infant
• Lipidoses (blood)
• Lipoproteins (analysis)
• Male
• Neuraminic Acids (analysis)
• Proteins (analysis)
• Serine (analysis)
• Threonine (analysis)