Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0272170 (SDS)
 50,377 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Since glutamine synthetase (GS) has been proposed as the primary enzyme in the regulation of glutamate metabolism in the central nervous system and since inhibition of the activity of this enzyme in vivo leads to seizures, it has been proposed that an abnormality in the structure or function of this enzyme could be responsible for the induction of seizures in epilepsy prone rats. To test this hypothesis the glutamine synthetases were purified from the brains of both genetically epilepsy prone rats (GEPR) and their progenitors, genetically epilepsy resistant rats (GERR). The enzymes were compared using both SDS-PAGE and isoelectric focusing. The immunoreactivities of equal amounts of protein were determined using the ELISA technique, and the regulation of the glutamine synthetase activities by Mn2+/Mg2+ ratios were compared. The only difference found between the glutamine synthetases from the two strains was a slightly lower specific activity of the enzyme from the epilepsy prone animals.
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PMID:Comparison of glutamine synthetases from brains of genetically epilepsy prone and genetically epilepsy resistant rats. 135 42

Partially purified (Na+,K+)-ATPase (E.C. 3.6.1.3.) was investigated in the epileptic cortex of audiogenic DBA/2 mice and in the primary and secondary foci of cats with acute or chronic freeze lesions. No differences in specific activities measured at 3 mM K+ were observed between epileptic and control cortex, except an increase of enzymic activities in the primary focus of acutely lesioned cats. The (Na+,K+)-ATPase catalytic subunits were resolved by SDS-gel electrophoresis and their phosphorylation levels were measured in presence of K+ ions and phenytoin. K+ was more effective in inducing maximal dephosphorylation of (Na+,K+)-ATPase in C57/BL, with identical affinity in the two strains. Phenytoin decreased the net phosphorylation level of (Na+,K+)-ATPase by about 50% in C57/BL mice, but only by 20% in DBA/2 mice. Both K+ and phenytoin dephosphorylating influences were decreased in primary and secondary foci of acutely lesioned cats. Those changes were limited to the alpha(-) subunit. In chronic cats, the dephosphorylating step of the (Na+,K+)-ATPase catalytic subunit recovered a normal affinity to K+, but its sensitivity to phenytoin remained decreased. Those differences in K+ and phenytoin influences on brain (Na+,K+)-ATPases between control and epileptic cortex might be responsible for the ictal transformation and seizure spread. In cats, the alteration of the alpha(-) isoform could mainly affect the glial cells.
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PMID:Phosphorylation of brain (Na+,K+)-ATPase alpha catalytic subunits in normal and epileptic cerebral cortex: I. The audiogenic mice and the cat with a freeze lesion. 165 58

We examined the activity and phosphorylation level of (Na+,K+)-ATPase (E.C. 3.6.1.3) partially purified from normal and epileptic human cortices. Control patients (n = 11) were operated on for a non-epileptogenic deep brain lesion, while epileptic patients (n = 10) were operated on for temporal or frontal originating partial seizures, resistant to medications or secondary to evolutive brain tumors. No differences in the specific activity of microsomal (Na+,K+)-ATPase were observed between the two groups of patients. After partial purification of the enzyme followed by SDS-polyacrylamide gel electrophoresis, (Na+,K+)-ATPase catalytic subunit had a decreased affinity for K+ in human epileptic cortex and lost its sensitivity to phenytoin dephosphorylation. Indirect evidence suggests that those abnormalities of (Na+,K+)-ATPase in human epileptic cortex hold preferentially true for the alpha(-) enzymatic subunit. Those results indicate that, in human epileptic cortex, (Na+,K+)-ATPase and most probably its glial subtype is altered in its K+ regulation and phenytoin sensitivity and could be responsible for ictal transformation and seizure spread.
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PMID:Phosphorylation of brain (Na+,K+)-ATPase alpha catalytic subunits in normal and epileptic cerebral cortex: II. Partial seizures in human epilepsy. 165 59

In cobalt-induced epileptogenic cortex in rats, a marked increase in two proteins of about 84 kDa and 70 kDa, a slight increase in 12-kDa and 10-kDa proteins and a decrease in a protein of about 57 kDa were noted, as determined by SDS-polyacrylamide gel electrophoresis. The initiation of these protein changes was ahead of the generation of epileptogenic activities. The anticonvulsant drugs phenytoin (PHT) and phenobarbital (PB) attenuated the cobalt-induced epileptogenic activities, but failed to suppress the protein changes. Among these proteins, a 70-kDa protein, when injected intracortically into the motor region of the normal rat cerebrum, evoked epileptic discharges on the electrocorticograph and behavioral seizure, which were abolished by prior treatment with PHT or PB. These findings suggest that the above protein changes are not an indirect offshoot of secondary stimulation of neurons by neurotransmitters or neuromodulators, and that P70 may contribute to the generation of epileptic seizure activities.
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PMID:Protein changes associated with cobalt-induced epileptic activity in rat cerebral cortex. 206 47

A 28-month-old black male died with severe complications of mental and motor deterioration, seizures, and aspiration. Autopsy demonstrated moderate liver enlargement, normal spleen and kidneys, small testes, and a grossly normal brain. Further examination showed irregular macrogyrae with evidence of a storage or sclerotic process. Thin layer chromatography of the lipids in formalin-fixed tissue demonstrated elevated levels of ceramide trihexoside and possibly sulfatides in liver and a decrease in the ratio of galactosylceramide to sulfatide in brain. Examination of the gangliosides in formalin-fixed brain indicated a slight increase in the percentage of GM1 ganglioside and a clear elevation in GM2 and GM3 gangliosides. Cultured skin fibroblasts had a normal activity for a large number of lysosomal enzymes including arylsulfatase A and galactocerebrosidase. When the cells were loaded with [14C]sulfatide only about 12% of the sulfatide was metabolized after 3 days. Extracts of the cells were subjected to SDS-PAGE and immunoblotting with antisphingolipid activator protein-1 (SAP-1) rabbit antiserum, and no cross-reacting material was detected confirming the diagnosis of metachromatic leukodystrophy caused by SAP-1 deficiency. This patient was clinically more severe than the other patients described previously with this deficiency. Further studies are underway to define the nature of the mutation in this patient.
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PMID:Clinical, pathological, and biochemical studies on an infantile case of sulfatide/GM1 activator protein deficiency. 276 35

(Na+, K+)-ATPase (E.C.3.6.1.3) was partially purified from the cerebral cortex of audiogenic DBA/2 mice, from the primary and secondary epileptogenic foci of cats with a freeze lesion and from normal and epileptic human cortices. No differences in the specific activities of the microsomal enzyme were observed between normal and epileptic cortex. The influence of K+ ions and phenytoin, a potent antiepileptic drug, was then studied on the phosphorylation level of (Na+, K+)-ATPase alpha(+) (neuronal) and alpha(-) (non-neuronal) catalytic subunits resolved by SDS-gel electrophoresis. In normal cortex, the apparent affinity of the non-neuronal enzyme to K+ ions was reduced compared to the affinity of the neuronal enzyme. Phenytoin decreased the phosphorylation level of (Na+, K+)-ATPase purified from non-epileptogenic cortex of control C57/BL mice, cats and human patients. In fact, the drug induced the dephosphorylation of the (Na+, K+)-ATPase catalytic subunits, mainly of its alpha(-), non-neuronal subtype. In the cortex of audiogenic DBA/2 mice, K+ ions induced the dephosphorylation of (Na+, K+)-ATPase, with the same affinity as in control C57/BL mice. The dephosphorylating influence of phenytoin was however much decreased. In the primary and secondary foci of lesioned cats, both K+ and phenytoin dephosphorylating influences were decreased. Those changes were especially valid for the alpha(-), non-neuronal subunit. In human epileptic cortex, the (Na+, K+)-ATPase catalytic subunit had a decreased affinity to K+, as well as it lost its sensitivity to phenytoin dephosphorylation. Those results confirm the existence of two molecular forms of (Na+, K+)-ATPase in animal and human brain cortex. Those two forms, the neuronal and the non-neuronal or glial (Na+, K+)-ATPases, differ at least by their K+ regulation and their phenytoin sensitivity. Phenytoin studies also suggest that the drug stimulates the cortical (Na+, K+)-ATPase, mainly its glial form, providing central nervous system with an enhanced ability to regulate extracellular K+. In epileptic cortex, (Na+, K+)-ATPase and especially its glial form is altered in its K+ regulation and phenytoin sensitivity. That deficiency of glial (Na+, K+)-ATPase in focal epileptogenic cortex could be responsible for ictal transformation and seizure spread (Acta neurol. belg., 1988, 88, 257-280).
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PMID:Brain cortical (Na+ K+)-ATPase in epilepsy. A biochemical study in animals and humans. 285 92

A 2-month-old boy had progressive generalized weakness, hypotonia, and respiratory insufficiency requiring assisted ventilation. At age 3 1/2 months, he started having seizures and recurrent pulmonary infections; he died at age 7 months. Serum lactate was chronically elevated, but there was no aminoaciduria. Histochemical and ultrastructural studies of muscle biopsies at ages 2 and 3 months showed excessive mitochondria, lipid, and glycogen; a third biopsy at 6 months showed marked increase in perimysial fibrous and fat tissue. Cytochrome c oxidase activity was 7% of normal in the first biopsy and undetectable in the others. Cytochrome spectra of mitochondria isolated from postmortem muscle showed complete lack of cytochrome aa3. Antibodies were obtained against cytochrome c oxidase purified from normal human heart. Immunotitration and enzyme-linked immunosorbent assay (ELISA) showed decreased immunologically reactive enzyme protein in the patient's muscle, but SDS-PAGE electrophoresis of immunoprecipitates of muscle mitochondrial extracts showed the presence of all cytochrome c oxidase subunits. These data suggest that decreased synthesis of one or more subunits may result in markedly decreased concentration of electrophoretically normal complex IV in skeletal muscle.
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PMID:Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. 298 57

Synaptosomal and TCA insoluble proteins were prepared from the cerebral cortices of El(+) during the interictal periods, El(0) which did not stimulate and convulse at all, the seizure-nonsusceptible ddY mice. Both the proteins analyzed by SDS-PAGE electrophoresis indicated 5 major bands and 20-30 minor bands. In the major bands, 67K protein of the synaptosomal and TCA insoluble proteins in the El(+) mice was significantly lower than those of the ddY or El(0) mice and of the ddY mice, respectively.
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PMID:Some properties of protein in synaptosomal fractions from El mouse cerebral cortices. 344 38

Between January 1, 1978, and August 31, 1985, 13 infants aged 6 to 11 months received primary renal transplants (12, living related donor; one cadaver) at the University of Minnesota. Twelve infants are alive with functioning grafts (10 primary and two second transplants) after 4 months to 7.5 years. To assess the long-term outcome, we analyzed growth and development in the first nine infants 2 to 7.5 years after receiving their first transplant. Before transplantation, head circumference and height standard deviation scores in six of nine infants were less than -2. Five had seizures; four had delayed mental development, and six delayed motor development. The mean increment in height standard deviation scores for six boys after transplantation was +1.4 (P less than 0.05), and one achieved complete catch-up growth. The mean difference in height standard deviation scores for three infant girls with primary hyperoxaluria was -2.1; nevertheless, two infants with oxalosis are currently alive 2.7 to 3.3 years later. All eight surviving children achieved normal head circumference (mean improvement +2.2 SDS, P less than 0.001), and no child had further seizures. Of seven infants reassessed with the Bayley Scales after transplantation, mental development was normal in all and motor development was normal in five. Our findings suggest that early living related renal transplantation is an important option in the management of end-stage renal disease in infants.
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PMID:Growth and development in infants after renal transplantation. 354 47

Haemophilus influenzae type b (HIb) is the most common cause of bacterial meningitis in children with a mortality rate ranging from 1.6% to 14%. Most patients have a 2-3 day history of symptoms prior to admission. A few have fulminating disease with rapid neurological deterioration. Review of 191 cases of HIb meningitis revealed a mortality rate of 2.1% but all who died had fulminating meningitis (FM). Four of six patients with FM died. FM patients had symptoms for less than 24 hours before rapid neurological deterioration with increased ICP, seizures, coma and/or respiratory arrest. Review of 10 FM cases revealed that on admission, 5 had hypotension, 3 had thrombocytopenia, and 8 had coma. Typical CSF changes were seen in only 7. All fatal cases died within 24 hours. Brain swelling and tonsillar herniation were found at autopsy. SDS-PAGE outer membrane protein subtyping did not show one "killer strain". Animal and autopsy data suggest that diminished CSF outflow and cerebral edema contribute to increased ICP. To improve survival of FM patients, initial treatment must (1) decrease ICP below levels impairing cerebral perfusion, (2) maintain adequate ventilation and blood pressure, and include (3) LP when stable, (4) antibiotics, and (5) close monitoring. Utilizing these principles, two FM patients survived without major sequelae.
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PMID:Fulminating haemophilus influenzae b meningitis. 670 99


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