Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:O95477 (membrane-bound)
 29,236 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We have discovered a cytoplasmically inherited infectious agent that inhibits meiosis in a species of Coprinus, a basidiomycetous fungus. From infectivity, filtration, centrifugation and ultrastructural studies we believe the agent to be a mycoplasma. The agent is highly infectious to several strains of the host species and is capable of spreading rapidly through infected hosts. No pathological effect has been seen on any aspect of growth or differentiation of the fungus except for the inability of infected strains or undergo meiosis. The failure of meiosis results in mushrooms that do not produce the normal black spores and are therefore pale in colour. The paleness represents a simple assay for the presence and activity of the infectious agent. Infected hosts do not display any ultrastructural abnormalities in the vegetative stages, only in the cells in which meiosis should occur. In the meiotic cells, at the time when normal cells are undergoing synapsis and synaptinemal complexes are forming, the vacuoles of the infected cells become occupied with vesicular, membrane-bound bodies resembling in shape and form mycoplasmas. Extracts from infected clones may be filtered through 0.2-mum filters and retain full infectivity. The infectious material may be pelleted from such extracts at only 10 000g. Migration experiments, as well as the filtration studies, rule out involvement directly of nuclei. The high rate of infection and spread of the mycoplasma through the host, combined with the anatomical simplicity of the host, make this an ideal system in which to study the basis of infection. The singularity of the pathological effect make this host-parasite association useful in studying both the underlying mechanisms of mycoplasma pathogenicity and to investigate the regulation of meiosis. This is only the second report of mycoplasmas in fungi.
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PMID:A highly infectious 'mycoplasma' that inhibits meiosis in the fungus Coprinus. 94 81

A diagnosis of beta-mannosidosis, a lysosomal storage disease caused by a deficiency of beta-mannosidase, was made in 12 purebred Salers calves. Affected neonatal calves were unable to rise and had intention tremors, hidebound skin, slightly domed calvaria, slight prognathism, and narrow palpebral fissures. Postmortem findings included variable dilatation of the lateral cerebral ventricles, marked pallor and paucity of white matter of the cerebrum and cerebellum, and mild to marked bilateral renomegaly. Microscopic lesions consisted of clear, intracytoplasmic vacuoles, which were especially prominent in neurons, thyroid follicular cells, proximal renal tubular epithelium, and reticuloendothelial cells. By ultrastructural examination, the intracytoplasmic vacuoles were identified as membrane-bound lysosomes distended by lucent material. The serum of affected calves was profoundly deficient in beta-mannosidase. Oligosaccharides, principally a trisaccharide with a terminal hexose in the beta-anomeric configuration, accumulated in tissues of affected calves. The percentage (37.2) of affected calves from groups of siblings, the approximately equal sex ratio, and the phenotypic normalcy of the parents of affected calves are compatible with an autosomal recessive mode of inheritance typical of other glycoproteinoses.
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PMID:Beta-mannosidosis in twelve Salers calves. 199 62

Pipecolic acid is a cyclic secondary imino acid produced in the metabolism of lysine. The metabolic role and fate of pipecolic acid in the human central nervous system are largely unknown. The biochemical defect in two brothers, both less than two years of age, with minor dysmorphic features, progressive neurological dysfunction, and hepatomegaly was identified as hyperpipecolatemia. At autopsy, the older brother's brain weight was increased, with bilateral pallor of the putamen. Distinctive changes included accumulation of 1-1.5 micrometer periodic acid-Schiff (PAS) positive, diastase-resistant, Alcian blue-negative, non-lipid, non-fluorescent granules in astrocytes, satellite cells, and perivascular foot processes. Both light and electron microscopy showed total absence of these granules in neurons. In the older sibling, the liver showed micronodular cirrhosis with distinctive intrahepatocytic accumulation of 0.2-1 micrometer membrane-bound material of low electron density. Pericellular fibrosis and similar cytoplasmic inclusions were present in the liver biopsy from his brother. The distinctive astrocytic storage phenomenon and the liver changes are compared to the findings in Zellweger's syndrome and lysinuric protein intolerance, which are also associated with altered pipecolate metabolism.
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PMID:Pathologic alterations in the brain and liver in hyperpipecolic acidemia. 663 55

The history and findings at autopsy of a 9-year-old female with I-cell disease are reported. She manifested gargoyle face, progressive psychomotor retardation, and increased serum levels of lysosomal enzymes with decreased activities in peripheral blood lymphocytes. She received a bone marrow transplantation from her HLA-mismatched father when she was 8 years old. Rejection followed, and 9 months later, she died of cardiac failure secondary to aortic regurgitation. The characteristic inclusion bodies, ultrastructurally corresponding to double-membranous lamellar vacuoles and empty single membrane-bound vacuoles, were identified in dermal fibro blasts, macrophages, glomerular epithelial cells, cardiomyocytes and smooth muscle cells. Pale bodies, faintly eosinophilic cytoplasmic globular inclusions immunoreactive for plasma proteins, were observed in hepatocytes and renal collecting tubular epithelial cells. Enzyme histochemical analyses were performed for N-acetyl-beta-glucosaminidase, beta-glucuronidase, nonspecific esterase and acid phosphatase. Decreased activities of the acid hydrolases and their diffusion in the cytoplasm were seen in Kupffer's cells. Ultrastructural localization of acid phosphatase activity suggested the labilization of the lysosomal membrane. The abnormality in the intracellular transport of the acid hydrolases into the lysosomes in I-cell disease is briefly reviewed and discussed.
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PMID:I-cell disease: report of an autopsy case. 879 67

We used the fimbria-fornix (FF) transection model of axonal injury to test the hypothesis that transneuronal degeneration occurs in the adult central nervous system in response to deafferentation. The medial mammillary nucleus, pars medialis (MMNm) was analyzed by light and electron microscopy at 3, 7, 14, and 30 days, and 6 months after unilateral FF transection in adult rat to identify the time course of neuronal responses in a remote target. Presynaptic terminals and neuronal cell bodies degenerated in the MMNm ipsilateral to FF transection. Terminal degeneration occurred predominantly at 3 and 7 days postlesion. Between 14 and 30 days postlesion, neuronal number in the MMNm decreased (approximately 20%). Two forms of neuronal degeneration were found in the MMNm after deafferentation. Some neurons died apoptotically. Other neurons underwent vacuolar degeneration. In these latter neurons, somatodendritic pathology occurred at 14 and 30 days and 6 months postlesion. The ultrastructure of this vacuolar degeneration was characterized by disorganization of the cytoplasm, formation of membrane-bound vacuolar cisternae and membranous inclusions, loss of organelles, cytoplasmic pallor, and chromatin alterations. This study shows that both anterograde axonal degeneration and transneuronal degeneration occur in a fornical target after FF axon transection. This transneuronal degeneration can be classified as sustained neuronal atrophy or transsynaptic apoptosis.
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PMID:Axonal transection in adult rat brain induces transsynaptic apoptosis and persistent atrophy of target neurons. 1185 82

Ten out of 47 calves that were born in a small Brahman herd from southern Brazil developed progressive muscular weakness and tremors, lethargy and poor body condition. Necropsy was performed on three affected animals. The only gross lesion detected was paleness of the muscles of the trunk and limbs. Multiple cytoplasm vacuoles located in different tissues were the principal microscopic lesions. Vacuoles were particularly evident in skeletal muscles and myocardium. PAS-positive granules were numerous in skeletal muscle fibres and Purkinje fibres of the myocardium, but were also observed in the neurons of the brain and spinal cord, and in the vascular smooth muscle fibres from all the examined tissues. Pretreatment with diastase completely abolished the PAS reactivity. The vacuoles reacted strongly to Griffonia simplicifolia II and Concanavalia ensiformes lectins, whose biding pattern has been reported as useful for demonstration of glycogen. Examination of the electron micrographs revealed that glycogen was free within the cytoplasm or accumulated in membrane-bound granules of several tissues, especially in striated muscle, liver and neurons of the CNS. These findings were consistent with generalized glycogenosis.
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PMID:Lectin-histochemistry: glycogenosis in cattle. 1650 5