Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P30044 (antioxidant enzyme)
 8,037 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Variegate porphyria is the result of decreased protoporphyrinogen oxidase (PPOX) activity, the penultimate enzyme of haem biosynthesis. Haem precursors can produce free radicals and activate oxygen-inducing oxidative stress. Our aim was to analyse the effects of variegate porphyria on haemoglobin levels, antioxidant enzyme activities and oxidative damage in circulating erythrocytes. Twelve women affected by variegate porphyria and 12 control healthy women participated in the study. Women affected by variegate porphyria presented reduced PPOX content and delta-aminolevulinic acid dehydratase activity in erythrocytes. Haemoglobin content and mean corpuscular volume were higher in the porphyric group. Erythrocyte glutathione reductase and superoxide dismutase activities and catalase content were higher in porphyric women, although MDA levels were also higher in the erythrocytes of the porphyric group. In conclusion, the determination of PPOX could be a useful method to detect variegate porphyria. Despite having higher antioxidant defences, erythrocytes of porphyric women have greater oxidative damage and higher corpuscular volume, which are both indices of a situation of higher oxidative stress.
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PMID:Enzyme antioxidant defences and oxidative damage in red blood cells of variegate porphyria patients. 1938 74

The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Porhobilinogen deaminase (PBGD) and protoporphyrinogen oxidase (PPOX) gene and protein expression was analysed. Antioxidant enzyme activity and gene expression were additionally determined in blood cells, together with protein carbonyl content in plasma. PBMCs isolated from AIP patients presented low mRNA levels of PBGD when compared to controls, while PBMCs isolated from VP patients presented a decrease in PPOX mRNA. PPOX protein content was higher in AIP patients and lower in VP patients, compared to healthy controls. Regarding antioxidant enzymes, PBMCs and erythrocyte superoxide dismutase (SOD) presented statistically significant higher activity in AIP patients compared to controls, while catalase activity tended to be lower in these patients. No differences were observed regarding antioxidant gene expression in white blood cells. Circulating cells in AIP and VP patients present altered expression of haem biosynthetic enzymes, which could be useful for the differential diagnosis of these two types of porphyria in certain difficult cases. AIP patients present a condition of potential oxidative stress similar to VP patients, evidenced by the post-transcriptional activation of SOD and possible catalase impairment.
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PMID:Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. 2778 71