Brain β-Galactosidase and Gm1 Gangliosidosis

Chou, Li Fang; Kaye, Celia I.; Nadler, Henry L.

doi:10.1203/00006450-197402000-00009

Cited by 9 publications

(4 citation statements)

References 6 publications

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“…is obscure. In a recent survey of GM1 gangliosidosis patients and normal livers (Norden and Chou et al (17) recently reported an altered electrophoretic mobility of a 4-methylumbelliferyl ,3-galactosidase in the brains of two of our patients with GM1 gangliosidosis Type 1, (but not in Type 2) and proposed that the enzyme is a structurally altered j3-galactosidase. This conclusion is not tenable since the extremely low GM, ,3-galactosidase activities present are not detectable as 4-methylumbelliferyl f3-galactosidase activity on starch gels under the conditions used.…”

Section: Resultsmentioning

confidence: 66%

“…This conclusion is not tenable since the extremely low GM, ,3-galactosidase activities present are not detectable as 4-methylumbelliferyl f3-galactosidase activity on starch gels under the conditions used. Furthermore, we have shown that while normal brain GM1 3-galactosidase (and the 4-methylumbelliferyl 3-galactosidase associated with it) crossreact immunologically with liver f3-galactosidase A, the residual 4-methylumbelliferyl f3-galactosidase in GM1 gangliosidosis brains that Chou et al (17) subjected to electrophoresis does not crossreact (Norden and O'Brien, unpublished data). The nature of this enzyme is not known, but it does not appear to be either a normal or mutant GM1 ,3-galactosidase.…”

Section: Resultsmentioning

confidence: 90%

See 1 more Smart Citation

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Norden¹,

O’Brien²

1975

Proc. Natl. Acad. Sci. U.S.A.

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In nine patients with GM, gangliosidosis, liver ganglioside GM1 B-galactosidase (EC 3.2.1.23) activity ranged from less than 0.01% to 0.05% of normal. In a tenth patient's liver, much higher activity was found (0.5% of normal). In this patient the residual enzyme had the same molecular weight as fl-galactosidase A, the major form of 6-galactosidase of normal human liver. No activity was found that corresponded to j3-galactosidase B, the minor form of human liver #-galactosidase. On starch gel electrophoresis, the patient's enzyme migrated less anodally than normal j3-galactosidase A, both before and after treatment with neuraminidase. P-Galactosidase from the patient had a Km that was higher than normal; 5-fold higher with ganglioside GM, and 2-fold higher with 4. methylumbelliferyl j0-galactoside. The patient's enzyme crossreacted immunologically with normal ,6-galactosidase A and had about 100-fold more antigenic activity per unit catalytic activity than the normal enzyme. The results indicate that in this patient a P-galactosidase A protein with altered charge and altered catalytic properties was present in relatively normal amounts, the first electrophoretic variant reported for a patient with a lysosomal hydrolase deficiency.

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Section: Resultsmentioning

confidence: 66%

Section: Resultsmentioning

confidence: 90%

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Norden¹,

O’Brien²

1975

Proc. Natl. Acad. Sci. U.S.A.

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“…Recently Chou et al [12] demonstrated that the optimum pH of brain ~-galaetosidase in both types of GM 1 gangliosidosis was 3. On both cellulose acetate and starch gel electrophoresis, brains from type ] but not from type 2 patients had a/~-galactosidase band which migrated toward the anode with a mobility different from that in control brains.…”

mentioning

confidence: 99%

“…GM 1 gangliosidosis type 2 has been diagnosed i n utero by enzyme assay of amniotic cells [10] and the pathologic features of the disease have been confirmed by examination of the therapeutically aborted fetus [12]. Enzyme assays of skin biopsies, fibroblasts and leukoeytes of heterozygotes show an intermediate deficiency of fl-gMactosidase in both disorders.…”

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confidence: 99%

Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)

et al. 1975

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Pathological, histochemical and ultrastructural studies on 3 siblings with GM 1 gangliosidosis type II are reported. These studies support a biochemical defect with profound deficiency of /~-galactosidase which results in widespread accumulation of the GM 1 ganglioside and its asialo derivative in brain and to a lesser extent in viscera, as well as in storage of a keratan sulphate-like mucopolysaccharide. Striking valvular changes in the heart without myocardial involvement were seen in all eases. The histochemical and ultrastructural changes are similar to those seen in GM~ gangliosidosis type I, though less severe. Autosomal recessive inheritance without apparent ethnic predilection seems likely.

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Morquio‐like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

et al. 1977

Am. J. Med. Genet.

100

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A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).

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Brain β-Galactosidase and Gm1 Gangliosidosis

Cited by 9 publications

References 6 publications

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

An electrophoretic variant of beta-galactosidase with altered catalytic properties in a patient with GM1 gangliosidosis.

Generalized gangliosidosis type II (Juvenile GM1 gangliosidosis)

Morquio‐like syndrome with beta galactosidase deficiency and normal hexosamine sulfatase activity: Mucopolysaccharidosis IVB

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