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001-es BibID:	BIBFORM038562
Első szerző:	Góth László (analitikus)
Cím:	Effects of rs769217 and rs1001179 polymorphisms of catalase gene on blood catalase, carbohydrate and lipid biomarkers in diabetes mellitus / Góth László, Nagy Teréz, Kósa Zsuzsanna, Fejes Zsolt, Harjit Pal Bhattoa, Paragh György, Káplár Miklós
Dátum:	2012
ISSN:	1071-5762
Megjegyzések:	Oxidative stress and deficiency of the enzyme catalase, which is the primary scavenger of the oxidant H(2)O(2), may contribute to diabetes. The current study examined two polymorphisms in the catalase gene, -262C>nT in the promoter and 111C>T in exon 9, and their effects on blood catalase activity as well as on concentrations of blood glucose, haemoglobin A1c, triglyceride, cholesterol, HDL, LDL, ApoA-I and ApoB. Subjects were type-1 and type-2 diabetics. We evaluated PCR-single strand conformational polymorphism for 111C>T and PCR-restriction fragment length polymorphism for -262C>T. TT genotype frequency of 111C>T polymorphism was increased in type-1 diabetes. Type-2 diabetics with the CC or CT genotypes had decreased catalase and increased glucose, hemoglobinA1c and ApoB. Type-2 diabetics who have TT genotype in -262C>T may have elevated risk for diabetes complications; these patients had the lowest mean catalase and HDL, as well as the highest glucose, haemoglobin A1c, cholesterol and ApoB.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Free Radical Research 46 : 10 (2012), p. 1249-1257. -
További szerzők:	Nagy Teréz (1971-) (molekuláris biológus) Kósa Zsuzsanna Fejes Zsolt (1988-) (molekuláris biológus) Bhattoa Harjit Pal (1973-) (laboratóriumi szakorvos) Paragh György (1953-) (belgyógyász) Káplár Miklós (1965-) (belgyógyász, diabetológus)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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001-es BibID:	BIBFORM056983
Első szerző:	Nagy Teréz (molekuláris biológus)
Cím:	Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia / Terez Nagy, Erika Paszti, Miklos Kaplar, Harjit Pal Bhattoa, Laszlo Goth
Dátum:	2015
Megjegyzések:	In blood, the hydrogen peroxide concentration is regulated by catalase. Decreased activity of catalasemay lead to increased hydrogen peroxide concentration, which may contribute to the manifestationof age-related disease. The aim of this study is to examine association of decreased blood catalaseactivity and catalase exon mutations in patients (n = 617) with diabetes (n = 380), microcytic anemia(n = 58), beta-thalassemia (n = 43) and presbycusis (n = 136) and in controls (n = 295). Overall, 51 patients(8.3%) had less than half of normal blood catalase activity. Their genomic DNA was used for mutationscreening of all exons and exon/intron boundaries with polymerase chain reaction-single-strand con-formation polymorphism (PCR-SSCP) and PCR-heteroduplex analyses, and mutations were verified withnucleotide sequencing. Seven patients (type 2 diabetes (n = 3), gestational diabetes (n = 1), microcyticanemia (n = 2)) had four novel catalase exon mutations namely, c.106 107insC, p.G36Afs*5(n = 3, Hun-garian type G1), c.379C>T, p.R127Y (n = 2, Hungarian type H1), c.390T>C, p.R129L, (n = 1, Hungarian typeH2) and c.431A>T, p.N143V (n = 1, Hungarian type H3). In patients with decreased blood catalase, theincidence of acatalasemia mutations was significantly high (P < 0.0002) in microcytic anemia, type 2 andgestational diabetes. The four novel mutations were probably responsible for low blood catalase activityin 7/51 patients. In the remainder of the cases, other polymorphisms and epigenetic/regulatory factorsmay be involved.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Blood catalase Catalase decrease Mutation screening Novel catalase exon mutations Diabetes mellitus Microcytic anemia
Megjelenés:	Mutation Research-Fundamental And Molecular Mechanisms Of Mutagenesis 772 (2015), p. 10-14. -
További szerzők:	Pászti Erika (1976-) (orvos) Káplár Miklós (1965-) (belgyógyász, diabetológus) Bhattoa Harjit Pal (1973-) (laboratóriumi szakorvos) Góth László (1943-) (analitikus)
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