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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)
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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