Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia

Mutation Research
Teréz NagyLászló Góth

Abstract

In blood, the hydrogen peroxide concentration is regulated by catalase. Decreased activity of catalase may lead to increased hydrogen peroxide concentration, which may contribute to the manifestation of age-related disease. The aim of this study is to examine association of decreased blood catalase activity 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 mutation screening of all exons and exon/intron boundaries with polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) and PCR-heteroduplex analyses, and mutations were verified with nucleotide sequencing. Seven patients (type 2 diabetes (n=3), gestational diabetes (n=1), microcytic anemia (n=2)) had four novel catalase exon mutations namely, c.106_107insC, p.G36Afs*5(n=3, Hungarian type G1), c.379C>T, p.R127Y (n=2, Hungarian type H1), c.390T>C, p.R129L, (n=1, Hungarian type H2) and c.431A>T, p.N143V (n=1, Hungarian type H3). In patients with decreased blood catalase, the incidence of acatalasemia mutations was significantly ...Continue Reading

References

Jan 20, 1990·Journal of Molecular Biology·J K WenM Ogata
Sep 5, 1985·Journal of Molecular Biology·I Fita, M G Rossmann
Nov 27, 2008·Diabetes Care·László Góth
Mar 8, 2011·Antioxidants & Redox Signaling·Elizabeth Veal, Alison Day
Oct 12, 2011·International Journal of Laboratory Hematology·Z KósaL Góth
Mar 1, 2012·Archives of Biochemistry and Biophysics·László Góth, Teréz Nagy
Dec 5, 2012·Mutation Research·Mariola Sliwinska-Kowalska, Malgorzata Pawelczyk
Sep 13, 2013·Mutation Research·László Góth, Teréz Nagy

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Citations

Jan 12, 2021·Free Radical Research·Junichi FujiiMalay B Mukherjee

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