Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.1.6.1 (sulfatase)
3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multiple deficiency disorder fibroblasts cultured in MEM-CO2 showed deficiencies of arylsulfatase A(ARS A) comparable to the deficiency in metachromatic leukodystrophy fibroblasts. However, the MSDD fibroblasts cultured in MEM-HEPES contained near normal levels of ARS A. Moreover, the enzyme from the latter fibroblasts was indistinguishable from ARS A of control fibroblasts on DEAE-cellulose chromatography, ratio of activity with several substrates, thermal inactivation, sensitivity to inhibitors, and precipitation by antiserum to human ARS A. These data support the conclusion that the ARS A genome is intact in MSDD fibroblasts and, by extension, in MSDD patients. Other sulfatases were present at levels ranging from mildly deficient to near normal but never as low as seen in the corresponding specific sulfatase deficient disorders.
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PMID:Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. 2 85

L-Tyrosine O-sulfate was hydrolyzed by pure human arylsulfatase A (arylsufate sulfohydrolase, EC 3.1.6.1). The rate of hydrolysis was 1/20 of the rate with nitrocatechol sulfate, but was comparable to the rate with cerebroside sulfate. The reaction was optimal at pH 5.3--5.5 and displayed zero order kinetics with time and enzyme concentration. The Km was about 35 mM. The enzyme showed no stereospecificity and hydrolyzed D-tyrosine O-sulfate with Km and V similar to those for the L-isomer. Arylsulfatase B was less than 5% as effective as arylsulfatase A in catalyzing the hydrolysis of the tyrosine sulfates. The daily urinary excretion of tyrosine sulfate by a patient with metachromatic leukodystrophy (arylsulfatase A deficiency) was comparable to the excretion by control subjects. The biological relevance of the tyrosine sulfatase activity of arylsulfatase A remains uncertain.
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PMID:The activity of arylsulfatase A and B on tyrosine O-sulfates. 3 15

A 15-year-old girl with juvenile-onset metachromatic leukodystrophy (MLD) had markedly decreased leukocyte arylsulfatase A activity and low levels of leukocyte beta galactosidase and serum acid phosphatase. There was marked slowing of nerve condition velocity, and metachromasia was seen in biopsied sural nerve. Leukocyte arylsulfatase A activity was decreased in all members of the girl's family, and sural nerve action potentials were abnormal in two asymptomatic siblings. Electrophysiologic studies combined with biochemical studies may aid in the identification of presymptomatic metachromatic leukodystrophy homozygotes or asymptomatic heterozygotes.
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PMID:Juvenile-onset metachromatic leukodystrophy: biochemical and electrophysiologic studies. 3 75

Genetics of human lysosomal arylsulfatases A and B (aryl-sulfate sulfohydrolase, EC 3.1.6.1), associated with childhood disease, has been studied with human-rodent somatic cell hybrids. Deficiency of arylsulfatase A (ARS(A)) in humans results in a progressive neurodegenerative disease, metachromatic leukodystrophy. Deficiency of arylsulfatase B (ARS(B)) is associated with skeletal and growth malformations, termed the Maroteaux-Lamy syndrome. Simultaneous deficiency of both enzymes is associated with the multiple sulfatase deficiency disease, suggesting a common relationship for ARS(A) and ARS(B). The genetic and structural relationships of human ARS(A) and ARS(B) have been determined by the use of human-Chinese hamster somatic cell hybrids. Independent enzyme segregation in cell hybrids demonstrated different chromosome assignments for the structural genes, ARS(A) and ARS(B), coding for the two lysosomal enzymes. ARS(A) activity showed concordant segregation with mitochondrial aconitase encoded by a gene assigned to chromosome 22. ARS(B) segregated with beta-hexosaminidase B encoded by a gene assigned to chromosome 5. These assignments were confirmed by chromosome analyses. The subunit structures of ARS(A) and ARS(B) were determined by their electrophoretic patterns in cell hybrids; a dimeric structure was demonstrated for ARS(A) and a monomeric structure for ARS(B). Although the multiple sulfatase deficiency disorder suggests a shared relationship between ARS(A) and ARS(B), independent segregation of these enzymes in cell hybrids did not support a common polypeptide subunit or structural gene assignment. The evidence demonstrates the assignment of ARS(A) to chromosome 22 and ARS(B) to chromosome 5. A third gene that affects ARS(A) and ARS(B) activity is suggested by the multiple sulfatase deficiency disorder.
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PMID:Lysosomal arylsulfatase deficiencies in humans: chromosome assignments for arylsulfatase A and B. 3 11

Histopathological studies of the eyes from three patients affected with the infantile form of metachromatic leukodystrophy (MLD) showed the storage of metachromatic complex lipids in the retinal ganglion cells, in the optic nerve and the ciliary nerves, as well as the storage of a mucopolysaccharide-like material in the nonpigmented epithelium of the ciliary body. The lesions were limited to the optic, ciliary, and sensory nerves in a fourth patient with the juvenile form of the disorder. These morphological aspects, which are probably related to differences in sulfatase A activities, may explain the variability of the ocular manifestations in metachromatic leukodystrophy. Seven children affected with infantile MLD or with mucosulfatidosis were examined by conjunctival biopsy. Typical lesions of the sensory nerves were obvious and allowed the diagnosis of the disease. However, it seemed impossible to separate the different forms by histopathological studies only. The tear enzymes were assayed in most of the cases and demonstrated a profound deficiency of arylsulfatase A, or of arylsulfatase A and B, in the classical MLD and in mucosulfatidosis, respectively.
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PMID:Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants. 3 22

Arylsulfatase A was purified to apparent homogeneity from normal human livers obtained at autopsy. According to gel electrophoresis in sodium dodecyl sulfate, purified arylsulfatase A consistently contained two subunits of slightly different sizes: approximately 69 000 and 57 000 daltons, but were not present in stoichiometrically equal amounts. Peptide maps of the entire enzyme and of the two individual subunits showed that the two polypeptides share similar if not identical sequences. These observations raise the possibility that the smaller polypeptide might be derived from the larger one. The sensitive peptide mapping procedures employed will make feasible future studies with the abnormal enzyme found in metachromatic leukodystrophy.
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PMID:Studies in metachromatic leukodystrophy. XIV. Purification and subunit structure of human liver arylsulfatase A. 4 Jul 16

Two siblings of consanguinous parents were noted to have a neurologic syndrome marked by developmental delay, regression of psychomotor performance, marked spasticity and progressive central nervous system degeneration. Markedly delayed nerve conduction times and a sural nerve biopsy which demonstrated changes typical of metachromatic leukodystrophy (MLD) were evident. Impairment of sulfated glycolipid metabolism was documented by analysis of glycospingolipid in urinary sediment. In spite of these findings, activities of arylsulfatase A and cerebroside sulfatidase in white blood cells and cultured skin fibroblasts were near normal. However, when intact growing fibroblasts were loaded with 35SO4-sulfatide a clear defect in sulfatide cleavage, comparable to that seen in MLD patients, was observed. Thus, these patients represent a new form of sulfatide storage disease -- MLD characterized by intact enzyme activity in cell homogenates but defective sulfolipid metabolism in vivo and in intact fibroblasts.
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PMID:Metachromatic leukodystrophy without arylsulfatase A deficiency. 4 Dec 11

The clinical findings of three cases of metachromatic leukodystrophy, one of the late infantile, one of the juvenile and one of the adult variant are described and compared with those mentioned in relevant publications. Comparison of our findings lead us to conclude that a difference exists between the late infantile case on the one hand and the juvenile and the adult case on the other hand. This conclusion concurs with the results obtained by the enzymological study of the enzyme arylsulfatase A derived from the three cases. As to the characteristics of the enzyme arylsulfatase A, a difference was found to exist between the enzyme of the late infantile case on the one hand and that of the juvenile and the adult case on the other hand. The results of the electronmicroscopic investigation of peripheral nerve biopsy specimens of the three cases are briefly summarized. It is postulated that the ultrastructural findings do not justify any such distinction.
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PMID:Metachromatic leukodystrophy and age: a comparative study of clinical, enzymological and ultrastructural findings. 4 76

In a 13-year-old neurologically healthy boy from a family with adult-onset of metachromatic leukodystrophy (MLD) showing arylsulfatase A-deficiency in the adult, sural nerve biopsy probably was performed 2-3 decades before clinical manifestation of the disease could be expected. Ultrastructurally 4 basic types of inclusion bodies in Schwann cells could be demonstrated (pleo-morphic "zebra body"-like inclusions, double-lamellated inclusions, "tuff-stone"-like inclusions, granular osmiophilic inclusions). Additionally, endoplasmatic reticulum, mitochondria and lysosomes showed marked alterations. Advanced damage of myelin was only rarely seen, but initial segmental demyelination was a common finding. These early pathological changes in chronic MLD are thought to represent a subcellular metabolic insufficiency of Schwann cells in this disease.
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PMID:Ultrastructural findings of peripheral nerve in a preclinical case of adult metachromatic leukodystrophy. 19 53

In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found. The diagnosis of metachromatic leukodystrophy was confirmed biochemically in various organs of the fetus by the deficiency of arylsulfatase A. The residual enzyme activity was shown to have an abnormal pH optimum and an increased heat stability. Ultrastructural studies revealed lipid storage in the myelinating nervous system and in the liver. For the interpretation of morphological results, it was indispensable to analyze an age-matched control fetus.
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PMID:Prenatal metachromatic leukodystrophy. 23 16


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