Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Endocrine abnormalities in myotonic dystrophy (MyD) reflect some of the multi-systemic involvement resulting from this disorder. One of these, abnormal insulin secretion, is considered to be caused by receptor dysfunction. Bone abnormalities, cataract and calcium transport defect suggest the abnormal calcium metabolism in MyD. The calcium metabolism is chiefly regulated by parathyroid hormone (PTH). An interest in the similarity between MyD and pseudohypoparathyroidism, which is a disorder of PTH receptor dysfunction, encouraged the authors to evaluate renal PTH receptor function from the responses of urinary adenosine 3',5'-monophosphate (cAMP) and phosphate excretion after administration of human PTH(1-34). The responses of cAMP were high in 3 cases, low in one case, but normal in the 4 other cases. The phosphaturic responses were elevated in 3 cases, reduced in 3 cases, and normal in 2 other cases. Since these abnormal responses closely mimic those in hypoparathyroidism, there may also be renal PTH receptor dysfunction in some cases of MyD. The results of the present study suggest another peptide hormone receptor defect, similar to insulin, which supports the hypothesis of generalised receptor dysfunction in MyD.
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PMID:Evaluation of renal parathyroid hormone receptor function in myotonic dystrophy. 299 4

Cultured chick lens annular pad cells were treated with a lipid soluble cAMP analog, the phorbol ester TPA or a combination of the two compounds in order to assess their effects on mitotic activity, cell spreading and the accumulation of differentiation marker proteins. Both 8b-cAMP and TPA were individually able to inhibit mitotic activity in cells cultured in the presence of 5% serum. The combination of the two produced a greater degree of mitotic inhibition. Both compounds were also able to inhibit cellular spreading onto laminin coated surfaces. Opposite effects on the accumulation of differentiation marker proteins were observed for the two compounds. While 8b-cAMP increased levels of marker proteins, TPA or the combination of TPA and 8b-cAMP reduced levels of marker proteins. These data indicate that crosstalk between two distinct signal transduction systems in the lens is able to influence cell behaviors implicated in the development of secondary or posterior subcapsular cataract. In addition, these data demonstrate that both positive and negative regulatory influences affect the accumulation of differentiated characteristics.
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PMID:Phorbol esters affect cyclic nucleotide-mediated responses in cultured chick lens annular pad cells. 930 74

Based on their own studies and the data available in the literature, the authors consider the physicochemical aspects of cataract genesis. Emphasis is laid on the role of oxidative stress in this diseases. It is suggested that one of the key mechanisms of cataract genesis is the exhausted lenticular potential and oxidative stress, resulting in the formation of products that enhance lenticular photo lesion and imbalance of cyclonucleotide- and Ca(2+)-dependent cascade systems of regulation, which leas to impaired cAMP-dependent protein phosphorylation. Decreased phosphorylation of lenticular fiber proteins reduces their solubility and results in their sorption on the cell membranes, resulting in progressive impairment of the regulatory membrane placement. Light scattering on the folded membrane surfaces in the lenticular fibers is considered to be a main cause of lenticular opacity in cataract.
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PMID:[Physicochemical aspects of cataract genesis]. 1020 19

The development of the anterior segment of the mammalian eye is critical for normal ocular function, whereas abnormal development can cause glaucoma, a leading cause of blindness in the world. We report that orphan G protein-coupled receptor 48 (Gpr48/LGR4) plays an important role in the development of the anterior segment structure. Disruption of Gpr48 causes a wide spectrum of anterior segment dysgenesis (ASD), including microphthalmia, iris hypoplasia, irdiocorneal angle malformation, cornea dysgenesis, and cataract. Detailed analyses reveal that defective iris myogenesis and ocular extracellular matrix homeostasis are detected at early postnatal stages of eye development, whereas ganglion cell loss, inner nuclear layer thinness, and early onset of glaucoma were detected in 6-month-old Gpr48(-/-) mice. To determine the molecular mechanism of ASD caused by the deletion of Gpr48, we performed gene expression analyses and revealed dramatic down-regulation of Pitx2 in homozygous knockout mice. In vitro studies with the constitutively active Gpr48 mutant receptor demonstrate that Pitx2 is a direct target of the Gpr48-mediated cAMP-CREB signaling pathway in regulating anterior segment development, suggesting a role of Gpr48 as a potential therapeutic target of ASD.
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PMID:Deletion of G protein-coupled receptor 48 leads to ocular anterior segment dysgenesis (ASD) through down-regulation of Pitx2. 1842 56