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:2.6.1.1 (aspartate aminotransferase)
21,665 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mitochondrial fraction of serum glutamic-oxaloacetic transaminase was measured in the serum of 50 patients with Duchenne muscular dystrophy by an immunoadsorbent method. The enzyme activities in patients in the early, midstage, and late stages of the disease and controls were 21.8 +/- 7.4 (N=9), 12.2 +/- 3.7 (N=38), 6.4 +/- 1.2 (N=3) and 4.2 +/1 1.2 units/ml (N=15), respectively. The enzyme level in the early stage was significantly elevated (p less than 0.01, vs. control, p less than 0.05 vs. mid stage). As the disease progressed, the levels gradually declined, but mid-stage values were still higher than the late stage (p less than 0.01) or control values (p less than 0.01). In the late stage, enzyme activity was within the control range.
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PMID:Mitochondrial fraction of serum glutamic-oxaloacetic transaminase in Duchenne muscular dystrophy. 62 79

Duchenne muscular dystrophy (DMD) is a fatal disease for which there is no effective treatment. The cause of death in patients with DMD is often cardiovascular and pulmonary dysfunction. This clinical observation, combined with experimental findings, suggests that other non-muscle organ systems may be affected in the dystrophic disease state. To test this hypothesis, the present study investigated liver and kidney function in the mdx mouse. Serum chemistries and the hepatic cytochrome P-450 system in normal and dystrophic mdx mice were investigated at two different ages. Increases in serum lactate dehydrogenase (LDH), alkaline phosphatase (AP), aspartate transaminase (AST), and cholesterol levels, combined with an increase in liver weight and a decrease in cytochrome P-450, suggests the possibility of hepatic dysfunction. Increases in serum uric acid and phosphorus, and decreased kidney weight suggest hepatic dysfunction.
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PMID:Serum and organ indices of the mdx dystrophic mouse. 143 89

Serum activity of alanine aminotransferase (ALT) was consistently increased in dogs with canine X-linked muscular dystrophy (CXMD), a primary myopathy characterized by profound and on-going skeletal muscle necrosis. In order to determine whether the ALT was of liver origin, serum activity of creatine kinase (CK), aspartate aminotransferase (AST), ALT, and sorbitol dehydrogenase (SDH) obtained from dystrophic dogs was compared with enzyme activity present in clinically normal dogs. In dystrophic dogs at all ages tested, serum activity of CK, AST, and ALT was increased, and significant increases were present in dogs four weeks or older. In contrast, SDH activity in dystrophic dogs was not statistically different from values in clinically normal dogs. Ultrastructural examination of liver tissue revealed no evidence of hepatic degeneration in dystrophic dogs. It was concluded that increased serum activity of ALT in the dog may be associated with severe skeletal muscle degeneration, without concurrent hepatocellular necrosis.
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PMID:Increased serum alanine aminotransferase activity associated with muscle necrosis in the dog. 236 22

In myopathic disorders, abnormal serum enzyme activities are seen primarily in diseases of skeletal muscle where the condition involves the muscle fibers themselves. In denervation myopathies, serum enzyme activities are usually normal. The most dramatic increases of serum enzymes, particularly creatine kinase, are found in the dystrophic diseases, particularly Duchenne dystrophy. A review is given here of the many causes of abnormal serum enzyme activities where the source of enzymes is believed to be skeletal muscle. These include the dystrophies, various types of trauma, exercise, drug- and poison-induced causes including alcohol, malignant hyperthermia, inflammatory diseases, and miscellaneous causes. Tissue and serum activities are summarized for the commonly performed serum enzymes, i.e., CK, LD, AST, and aldolase. An extensive tabular and current description of the various types of dystrophies is given along with serum CK and pyruvate kinase activities.
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PMID:The enzymology of skeletal muscle disorders. 637 45

Calcium stimulated efflux of four enzymes from human rectus abdominis muscle was studied in vitro. The ratio of efflux of creatine kinase (EC2.7.3.2) increased with increasing calcium concentrations reaching a maximum level with 5mM calcium of 1.9 times that in the absence of calcium. Lactate dehydrogenase (EC 1.1.1.27) efflux at this calcium concentration increased to 2.6 times that in the absence of calcium. However, alanine aminotransferase (EC 2.6.1.2) and aspartate aminotransferase (EC 2.6.1.1) showed a slower increase in the rate of efflux in the presence of 5OmM calcium reaching levels of only 1.3 and 1.5 times respectively that in the absence of calcium. These observations suggest that calcium may be involved in augmenting enzyme efflux from human muscle and may therefore be of relevance in the pathogenesis of Duchenne muscular dystrophy.
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PMID:Calcium stimulated enzyme efflux from human skeletal muscle. 740 66

We utilized a heteroduplex method to screen for small mutations in Duchenne muscular dystrophy patients who did not have deletions or duplications. A dystrophin exon 53 heteroduplex band was identified in 14.4% of the affected patients. Direct sequencing of the amplified product from DNA producing the heteroduplex revealed the presence of a polymorphism in the coding region. The codon for asparagine was converted from AAT to AAC.
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PMID:Detection of an exon 53 polymorphism in the dystrophin gene. 810 63

A case of muscular dystrophy in a 1-year-old male castrated Domestic Shorthair cat is presented. The most striking clinical features were regurgitation, a stiff gait, an increased muscle tone and exercise intolerance. Serum biochemistry panels showed a marked increase in the muscle specific enzyme creatine kinase, and moderately elevated levels of LDH, AST and ALT. Spontaneous electrical activity of skeletal muscles in the form of "bizarre high frequency discharges" and "myotonia-like repetitive discharges" were registered. Gross pathology revealed a marked hypertrophy of the skeletal muscles. The main histopathological changes were myofiber necrosis and calcification, variation in fiber size, hypertrophied muscle fibers of type I and type II and fiber splitting. Indirect immunofluorescence showed dystrophin deficiency. Feline muscular dystrophy resembles the X-linked human Duchenne muscular dystrophy (DMD). Besides the X-linked muscular dystrophy in the mouse and Golden Retriever the feline muscular dystrophy could represent another valuable animal model for the study of DMD.
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PMID:[Muscular dystrophy in a cat]. 824 6

Prolonged elevation of the serum alanine aminotransferase (ALT) and aspartate aminotransferase (AST) is often attributed to hepatic diseases. However, these enzymes are also present in a variety of extrahepatic tissues, including skeletal muscle. Five children (all boys) were referred to the pediatric department of the National Taiwan University Hospital because of persistent elevation of serum aminotransferase activities. The ages of these children were between 4 months and 5.5 years. The neurological findings were all not remarkable. The initial ALT and AST values were 114-581 U/L and 183-700 U/L, respectively. Serum creatine kinase was checked first after 0 to 30 months follow-up and found to be markedly elevated (range, 10,557 U/L to 62,508 U/L). Muscle biopsies in the five cases all showed degenerating and regenerating myofibers with interstitial fibrosis. In Cases 3, 4 and 5, complete absence of dystrophin immunoreactivity was found. Genetic studies showed deletions in the DMD gene (exons 45-48 in case 2 and 49-50 in case 4). This experience indicates that occult muscle diseases should be taken into account in patients with unexplained long-lasting hypertransaminasemia and therefore measurement of serum creatine kinase activity and muscle biopsy should be done early for the correct diagnosis of muscular dystrophy.
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PMID:Persistent hypertransaminasemia as the presenting findings of muscular dystrophy in childhood. 1092 57

Duchenne muscular dystrophy (DMD), a lethal disorder characterized by dystrophin absence, courses with chronic inflammation, sarcolemmal damage, and skeletal muscle degeneration. Among the multiple pathogenic mechanisms proposed for DMD, oxidative stress and inflammation are directly involved in the dystrophic process. Unfortunately, there is no current treatment for DMD, and the inflammatory process is an important target for therapies. Based on the antioxidant and anti-inflammatory properties of melatonin, we investigated whether melatonin treatment may reduce the dystrophic process. Ten DMD patients aged 12.8 +/- 0.98 yr, were treated with melatonin (60 mg at 21:00 hr plus 10 mg at 09:00 hr), and plasma levels of lipid peroxidation (LPO), nitrites (NO(x)), interleukin (IL)-1beta, IL-2, IL-6, tumor necrosis factor-alpha, interferon-gamma, and plasma markers of muscle injury, were determined at 3, 6 and 9 months of treatment. Healthy age- and sex-matched subjects were used as controls. The results show a significant increase in LPO, NO(x), and cytokine levels in plasma of DMD patients compared with controls. Melatonin administration reduced these values to control levels at 3 months of treatment, decreasing further 9 months later. In parallel, melatonin also reduced plasma levels of creatine kinase (CK; 50%), lactate dehydrogenase (28%), aspartate aminotransferase (28%), alanine aminotransferase (20%), and myoglobin (13%). These findings strongly support the conclusion that melatonin administration significantly reduced the hyperoxidative and inflammatory process in DMD patients, reducing the muscle degenerative process.
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PMID:Melatonin treatment normalizes plasma pro-inflammatory cytokines and nitrosative/oxidative stress in patients suffering from Duchenne muscular dystrophy. 2021 Aug 54

The transaminases alanine aminotransferase (ALT) and aspartate aminotransferase (AST) are markers of hepatocellular injury but are highly concentrated in muscle cells. Consequently, muscular dystrophies such as Duchenne muscular dystrophy, lead to hypertransaminasemia. Elevation in ALT and AST is most striking during the early stages of disease, before onset of or when only subtle signs of muscle disease are present. Thus, the incidental finding of elevated ALT/AST may be the presenting sign of muscle disease in many children and provides an opportunity for early diagnosis. Many physicians, however, pursue extensive workup for liver disease in children who present with the incidental finding of elevated ALT/AST. This results in delayed diagnosis and initiation of treatment and increased expense and may lead to unnecessary invasive procedures. We report 12 patients with muscle disease who presented with a variety of symptoms and were found to have an incidental finding of elevated ALT/AST. We propose a rapid screening process for evaluating children with the incidental finding of elevated ALT/AST to shorten the time to diagnosis of muscle disease.
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PMID:Consider muscle disease in children with elevated transaminase. 2313 37


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