Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component

@article{Okada1969TaySachsDG,
  title={Tay-Sachs Disease: Generalized Absence of a Beta-D-N-Acetylhexosaminidase Component},
  author={Shintaro Okada and John S. O'brien},
  journal={Science},
  year={1969},
  volume={165},
  pages={698 - 700}
}
  • Shintaro Okada, J. O'brien
  • Published 15 August 1969
  • Biology, Medicine
  • Science
Two hexosaminidase components, separable by starch-gel electrophoresis and possessing both β-D-N-acetylglucosaminidase and β-D-N-acetylgalactosaminidase activity, are present in human tissues. One of these, hexosaminidase component A, is absent in brain, liver, kidney, skin, cultured skin fibroblasts, blood plasma, and leukocytes from nine patients with Tay-Sachs disease. Hexosaminidase assay may facilitate the early diagnosis of individuals homozygous for Tay-Sachs disease. 
Identification of Tay-Sachs Genotypes by Hexosaminidase Analysis of Urine and Tear Samples
TLDR
The absence of N-acetyl-β-D-hexosaminidase A activity in the body fluids and tissues of patients with Tay-Sachs disease results in the cerebral accumulation of the GM2-ganglioside, which is responsible for all the clinical symptoms and pathological findings in the disease. Expand
A new from of residual hexosaminidase activity in infantile Tay Sachs disease fibroblasts
Fibrolast cells lines obtained from five patients with the early onset form of Tay Sachs disease (TSD) possess a species of β‐N‐acetylhexosaminidase (Hex) which is more anionic than Hex B but whichExpand
Tay-Sachs' retina. Deficiency of acetyl hexosaminidase A.
  • E. Cotlier
  • Biology, Medicine
  • Archives of ophthalmology
  • 1971
TLDR
The chemical differential diagnosis of gangliosidosis and other lipidoses with cherry red spot lesions of the retina is presented and total acetyl hexosaminidase, B-glucosidase and B-galactosid enzyme activities did not differ significantly in Tay-Sachs and control tissues. Expand
Human urinary N-acetyl-β-hexosaminidases
TLDR
Analysis of urinary N-acetyl-β-hexosaminidases by DEAE-cellulose chromatography revealed the presence of both the A and B isozymes and a new minor component designated N-Acetyl- β-hexOSaminidase M, found only in male urine, which was similar in its properties to the A form. Expand
Diagnosis of Tay-Sachs disease by estimation of beta-N-acetylhexosaminidase activity using a radiolabeled hyaluronic acid-derived trisaccharide substrate.
TLDR
Using a new radiolabeled substrate from hyaluronic acid, a striking deficiency of beta-N-acetylhexosaminidase activity is found in cultured skin fibroblasts and in liver homogenates from patients with Tay-Sachs disease. Expand
Tay-Sachs Disease with Altered β-Hexosaniinidase B: A New Variant?
Summary: A 2.5-year-old Japanese girl who showed signs and symptoms compatible with classic Tay-Sachs disease and had altered β-hexosaminidase B and I1 as well as completely deficientExpand
Chromatographic study of serum hexosaminidase in normal and GM 2-gangliosidosis.
TLDR
Serum hexosaminidase of Tay—Sachs disease patients had a high level of heat-stable components, especially of I 1 and I 2 , and this was similar to that of brain tissue, and the activity of each component of a heterozygote of Tay-SachS disease and Sandhoff's disease was intermediate between the normal and patient levels. Expand
Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease.
Abstract It has been shown through the use of specifically labeled Tay-Sachs ganglioside that normal human muscle tissue contains enzymes which catalyze the hydrolysis of the N-acetylneuraminyl andExpand
Tay-Sachs disease--the use of tears for the detection of heterozygotes.
TLDR
Screening for the detection of persons heterozygous for the causative gene was made possible by the observation that these persons have, on the average, 50 per cent of normal hexosaminidase A activity. Expand
Evidence for the presence of β-subunit of hexosaminidase in a case of Sandhoff disease using a blotting technique
TLDR
A technique involving successively electrophoresis of denatured proteins, transfer (blotting) onto nitrocellulose, and labelling by appropriate antibodies raised against the dissociated forms of hexosaminidases A and B allows the detection of α and β subunits in crude extracts of normal tissues. Expand
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 11 REFERENCES
Generalized Gangliosidosis: Beta-Galactosidase Deficiency
TLDR
A profound deficiency of β-galactosidase activity was found in tissues from two patients with generalized gangliosidosis and this deficiency is demonstrated as a failure to cleave both p-nitrophenyl-β-D-Galactopyranoside and gangliosiside GM1 labeled with C14 in the terminal galactose. Expand
The chemical structure of normal human brain and Tay-Sachs gangliosides.
  • L. Svennerholm
  • Chemistry, Medicine
  • Biochemical and biophysical research communications
  • 1962
TLDR
The ganglioside accumulated into the brain in Tay-Sachs disease has been shown to lack the galactose in end position and four neutral ceramide — saccharides which have been isolated and characterised. Expand
ULTRASTKUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY‐SACHS DISEASE AND GARGOYLISM
TLDR
In the case of systemic late infantile lipidosis, brain gangliosides were elevated, and thin-layer chromatography and analytical studies revealed a predominance of the G4 fraction, and numerous membranous cytoplasmic bodies and large lysosomes were found. Expand
N-Acetyl-β-glucosaminidases in human spleen
1. The N-acetyl-β-glucosaminidase of human spleen has been separated by gel electrophoresis into two components, an acidic form A and a basic form B. 2. The two forms are readily separated onExpand
Hurler's Syndrome: Deficiency of a Specific Beta Galactosidase Isoenzyme
A marked deficiency of a specific thermolabile β-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).
HISTOCHEMICAL DEMONSTRATION OF N-ACETYL-β-GLUCOSAMINIDASE EMPLOYING NAPHTHOL AS-BI N-ACETYL-β-GLUCOSAMINIDE AS SUBSTRATE
The N-acetyl-β-glucosaminide of naphthol AS-BI (7-bromo-3-hydroxy-2-naphth-o-anisidide) was obtained by reacting the anisidide with acetochloroglucosamine in aqueous alkaline acetone. After removalExpand
Isolation of -galactosidase and -glucosidase from brain
TLDR
Attention is drawn to the use of these enzymes for the hydrolysis of glyco-phingolipids by the combined action of both enzymes in brain tissue extracted from brain tissue and separated from each other. Expand
Tay-Sachs Disease (Grune
  • 1964
Kihara and the staff of Pacific State Hospital
    ...
    1
    2
    ...