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

Terez Nagy, Erika Paszti, Miklos Kaplar, H. Bhattoa, L. Góth

Research output: Contribution to journalArticle

2 Citations (Scopus)

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 high (P

Original languageEnglish
Pages (from-to)10-14
Number of pages5
JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
Volume772
DOIs
Publication statusPublished - Feb 1 2015

Fingerprint

Acatalasia
Hungary
Catalase
Anemia
Mutation
Exons
Hydrogen Peroxide
Presbycusis
Heteroduplex Analysis
Polymerase Chain Reaction
Gestational Diabetes
beta-Thalassemia
Introns
Type 2 Diabetes Mellitus
Nucleotides

Keywords

  • Blood catalase
  • Catalase decrease
  • Diabetes mellitus
  • Microcytic anemia
  • Mutation screening
  • Novel catalase exon mutations

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Health, Toxicology and Mutagenesis
  • Medicine(all)

Cite this

Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. / Nagy, Terez; Paszti, Erika; Kaplar, Miklos; Bhattoa, H.; Góth, L.

In: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 772, 01.02.2015, p. 10-14.

Research output: Contribution to journalArticle

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