title: Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.
abstract: 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.
authors: Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Miguel D
authors: MD
authors: Ferrer
authors: Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Antonia
authors: A
authors: Mestre-Alfaro
authors: Department of Nutrition and Food Science, Regional Campus of International Excellence "Campus Mare Nostrum", University of Murcia, Murcia, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Magdalena
authors: M
authors: Martínez-Tomé
authors: Biochemistry and Cell Therapy Unit, Institute of Bioengineering, University Miguel Hernandez, Elche, Spain.
authors: Lucrecia
authors: L
authors: Carrera-Quintanar
authors: Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Xavier
authors: X
authors: Capó
authors: Department of Nutrition and Food Science, Regional Campus of International Excellence "Campus Mare Nostrum", University of Murcia, Murcia, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Antonia M
authors: AM
authors: Jiménez-Monreal
authors: Department of Nutrition I, University Complutense of Madrid, Madrid, Spain.
authors: Luis
authors: L
authors: García-Diz
authors: Biochemistry and Cell Therapy Unit, Institute of Bioengineering, University Miguel Hernandez, Elche, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Enrique
authors: E
authors: Roche
authors: Department of Nutrition and Food Science, Regional Campus of International Excellence "Campus Mare Nostrum", University of Murcia, Murcia, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: María A
authors: MA
authors: Murcia
authors: Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Josep A
authors: JA
authors: Tur
authors: Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.|CIBEROBN (Fisiopatología de la Obesidad y la Nutrición CB12/03/30038) Instituto de Salud Carlos III, Madrid, Spain.
authors: Antoni
authors: http://orcid.org/0000-0003-2447-3868
authors: A
authors: Pons
mesh_terms: D015153:Blotting, Western; D016022:Case-Control Studies; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D015870:Gene Expression; D006418:Heme / Q000032:analysis / Q000096:biosynthesis*; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D018384:Oxidative Stress; D017118:Porphyria, Acute Intermittent / Q000097:blood / Q000201:enzymology; D046350:Porphyria, Variegate / Q000097:blood / Q000201:enzymology; D050768:Protoporphyrinogen Oxidase / Q000097:blood*; D060888:Real-Time Polymerase Chain Reaction
chemical_list: D006418:Heme; D050768:Protoporphyrinogen Oxidase; D011163:Hydroxymethylbilane Synthase