Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.30.2 (endonuclease)
 18,621 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In Holstein cattle, an inherited disease has been recognized recently in which leukocytes lack surface glycoproteins termed beta 2 integrins, which are important in cell adhesion processes. This disease is the homologue of leukocyte adhesion deficiency in human beings and has been termed bovine leukocyte adhesion deficiency. The molecular basis of this disease is failure to produce normal CD18. The gene encoding bovine CD18 and its abnormal mutation have been sequenced, allowing specific diagnosis of the condition by DNA amplification by polymerase chain reaction followed by specific endonuclease digestion. This test was applied to formalin-fixed archival tissues from 18 cattle that had been admitted to the veterinary medical teaching hospital between 1975 and 1991 and that had had persistent and severe neutrophilia. Blood samples were collected from 2 additional cattle, and leukocytes from these samples also were tested. Fourteen cattle were confirmed to have been homozygous for the bovine leukocyte adhesion deficiency gene. Cattle with this condition had ranged in age from 2 weeks to 8 months at admission. They typically had had chronic bacterial infections that had failed to respond to or had recurred after conventional treatment. Consistent findings in these cattle included signs of bronchopneumonia, gingivitis, periodontitis, and peripheral lymphadenopathy. Severe neutrophilia, usually without a left shift, was a hallmark of the disease; consistent clinical biochemical findings included hypoalbuminemia, hyperglobulinemia, and hypoglycemia. This disease is important because it mimics common calfhood diseases such as pneumonia and diarrhea, but is ultimately consistently fatal before adulthood.
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PMID:Clinical manifestations of leukocyte adhesion deficiency in cattle: 14 cases (1977-1991). 809 42

Flow cytometry, light and fluorescence microscopy, and designated biochemical techniques were used to examine the type of death which occurs in cerebral cortex cells when grown under crowded vs. sparse conditions or after brief anoxia/hypoglycemia. A 4 hr episode of anoxia combined with glucose deprivation enhanced apoptotic cell death as assessed by 4',6-diamidino-2-phenylindole (DAPI) staining and reduced neutral red eye uptake. An additional form of cell death involving exclusion of the nucleus was recorded by time lapse cinematography and DAPI stain. The presence of the endonuclease inhibitor aurintricarboxylic acid (0.1 mM) reduced cell death by 56.6%, while the protein and RNA synthesis inhibitors actinomycin D and cycloheximide (each at 5 micrograms/ml) effectively decreased cell death by 83.3% and 90.6%, respectively. In contrast, 5 mM glutamate had no effect on cell death in accord with the immature state of the cells. Growth of cells under crowded conditions improved cell survival; after 2 h or 4 days in culture, cells seeded at high density (34 microgram cellular DNA/cm2) showed a nearly 3-fold decline in the amount of cell death in comparison to cells seeded at low density (5 micrograms cellular DNA/cm2). At high cell density, anoxic episodes enhanced cell death most likely by preventing a cell density-mediated rescue. Neutral red dye uptake, an index for cell viability, was enhanced with increasing cell density and in vitro maturation, but was reduced in dense cultures exposed to anoxic/hypoglycemic conditions. The data suggest that cell density may play a critical role in brain organogenesis and that anoxic stress is more deleterious in dense than sparse cell assemblies.
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PMID:Apoptotic death in cerebral hemisphere cells is density dependent and modulated by transient oxygen and glucose deprivation. 906 56

Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we reported a novel mutation found in a Chinese patient with abnormal transaminases, hypoglycemia, hepatomegaly and short stature. Direct sequencing of the coding region and splicing-sites in the G6PC gene revealed a novel no-stop mutation, p.*358Yext*43, leading to a 43 amino-acid extension of G6Pase. The expression level of mutant G6Pase transcripts was only 7.8% relative to wild-type transcripts. This mutation was not found in 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, and was further confirmed by digestion with Rsa I restriction endonuclease. In conclusion, we revealed a novel no-stop mutation in this study which expands the spectrum of mutations in the G6PC gene. The molecular genetic analysis was indispensable to the diagnosis of GSD-Ia for the patient.
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PMID:A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia. 2435 56