Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We examined the degradation of a labeled phosphatidylglycerol (PG) by fibroblasts from a normal control and a patient with Niemann-Pick (NP) disease. The control homogenate had both phospholipase A and phospholipase C activities toward PG, but NP cells had only phospholipase A. The PG phospholipase C of control fibroblasts was solubilized by sonication and freezing and thawing, was most active at pH 5.0, and was inhibited by Ca2-, detergents, sphingomyelin, and 5' AMP. Assay of PG phospholipase C in fibroblast cultures from NP patients with sphingomyelinase deficiency (three designated type A and four type B) confirmed absence of activity, whereas cultures from NP patients without sphingomyelinase deficiency (three designated type C and one with neurovisceral lipidoses and vertical supranuclear ophthalmoplegia) had activities close to those of normal controls. These findings substantiate previous observations of low phosphodiesterase activities in NP disease and suggest that the enzymatic function affected by the NP genes includes specificity toward PG and sphingomyelin. Deficiency of PG phospholipase C may explain the accumulation of bis(monoacylglycero)phosphate in NP disease.
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PMID:Deficiency of phospholipase C acting on phosphatidylglycerol in Niemann-Pick disease. 668 61

Examination of release of labeled glyceride from 2-[1-14C]oleoyl phosphatidylcholine by a soluble extract of human fibroblasts confirmed the presence of phosphodiesterase which is stimulated strongly by sodium taurocholate. This activity was maximal at pH 4.5 and was inhibited by sphingomyelin and 5' AMP. Assay of the phosphatidylcholine phosphodiesterase activity in fibroblast cultures from patients with Niemann-Pick disease revealed a severe deficiency in those cultures also deficient in sphingomyelinase (3 type A and 4 type B) whereas assay of cultures from Niemann-Pick patients without sphingomyelinase deficiency (3 type C and 1 with neurovisceral lipidosis and vertical supranuclear ophthalmoplegia) gave activities similar to controls. The distribution of label in the products of the reactions catalyzed by both control and Niemann-Pick extracts indicates that the phosphodiesterase activity observed was phospholipase C and that phospholipase D was not involved. The close correlation of phosphatidylcholine phospholipase C and sphingomyelinase activities in the control and mutant fibroblasts strongly suggests that both activities are catalyzed by one enzyme. Various alterations in the regulation of the specificity of a multifunctional phospholipase C may underlie phenotypic variation in Niemann-Pick disease.
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PMID:Deficiency of taurocholate-dependent phospholipase C acting on phosphatidylcholine in Niemann-Pick disease. 685 19

Vardenafil is a potent phosphodiesterase-5 (PDE-5) inhibitor used in the treatment of erectile dysfunction. Several cases of stroke related to the use of PDE-5 inhibitors have been reported. Here, we describe the case of a 51-year-old man with headache and right ophthalmoplegia subsequent to vardenafil consumption. Computed tomography and magnetic resonance imaging showed a suprasellar mass with hemorrhage suggesting pituitary apoplexy. He underwent transsphenoidal resection of the pituitary mass. Histopathology confirmed the diagnosis of a necrotic pituitary adenoma with hemorrhage. This report suggests a possible association between pituitary apoplexy and vardenafil use. In patients with preexisting pituitary adenoma, vardenafil may enhance the risk of pituitary apoplexy. Although headache is the most commonly reported side effect of vardenafil, pituitary apoplexy should be considered in the differential diagnosis of a patient with headache and ophthalmoplegia subsequent to vardenafil intake.
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PMID:Pituitary adenoma apoplexy associated with vardenafil intake. 3054 75