Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P04040 (Catalase)
 3,577 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Werner Syndrome (WS, ICD-10 E34.8, ORPHA902) and Atypical Werner Syndrome (AWS, ICD-10 E34.8, ORPHA79474) are very rare inherited syndromes characterized by premature aging. While approximately 90% of WS individuals have any of a range of mutations in theWRN gene, there exists a clinical subgroup in which the mutation occurs in the LMNA/C gene in heterozygosity. Although both syndromes exhibit an age-related pleiotropic phenotype, AWS manifests the onset of the disease during childhood, while major symptoms in WS appear between the ages of 20 and 30. To study the molecular mechanisms of progeroid diseases provides a useful insight into the normal aging process. Main changes found were the decrease in Cu/Zn and Mn SOD activities in the three cell lines. In AWS, both mRNA SOD and protein levels were also decreased. Catalase and glutathione peroxidases decrease, mainly in AWS. Glutaredoxin (Grx) and thioredoxin (Trx) protein expression was lower in the three progeroid cell lines. Grx and Trx were subjected to post-transcriptional regulation, because protein expression was reduced although mRNA levels were not greatly affected in WS. Low antioxidant defense and oxidative stress occur simultaneously in these rare genetic instability disorders at the onset of progeroid disease.
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PMID:Oxidative stress and antioxidant response in fibroblasts from Werner and atypical Werner syndromes. 2479 29

The telomerase complex and Telosome regulate, maintenance and repair telomeres. The telomerase complex is formed by complex of protein (TERT, Dyskerin, GAR, NHP2, NOP10) and nucleic acid (TERC) that together work as a reverse transcriptase. The Telosoma comprises a network of protein (TRF2, TRF1, TIN2, RAP1, TPP1 and POT1). Furthermore, dyskeratosis congenita (DC) (ORPHA1775) is a rare disease with similar characteristics to premature aging. DC is a genetically heterogeneous disease caused by mutations in the genes that encoding for different subunits of the telomerase complex and Telosome. It is known that the telomeric DNA is susceptible to oxidative stress, and telomerase activity dependent cellular redox environment. Recently a correlation between telomerase activity and catalase activity was established, and it has suggested a role of antioxidant extranuclear telomerase. However, it is not yet clear whether there is any relationship or connection between molecular telomerase activity and cellular antioxidant defense. In this paper, by using the technology of RNA interference (siRNA) silencing DKC1, NOP10 genes of telomerase complex and TINF2 of Telosoma in HeLa cells, on cellular antioxidant capacity will be presented. It was intended to see if there is a cellular effect related to the production of oxidative stress or alteration of antioxidant systems after silencing these components involved in telomere maintenance. In this paper we have evaluated the levels of DKC1, NOP10, TINF2 levels of antioxidant enzymes (CuZnSOD, MnSOD, Catalase, Gpx1, Grx1 and Trx1) by RT- qPCR and Western blotting. We analyzed the production of reactive oxygen species by fluorimetry and also assessed the activity of the telomerase complex by Sybr Green RT- QTrap.
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PMID:Characterization of the antioxidant systems in different complementation groups of Dyskeratosis Congenita. 2646 48