Catalase 2262C>T polymorphisms in Hungarian vitiligo patients and in controls

Further acatalasemia mutations in Hungary

Zsuzsanna Kósa, Zsolt Fejes, Teréz Nagy, Melinda Csordás, Eniko Simics, E. Remenyik, L. Góth

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Catalase is the main regulator of hydrogen peroxide metabolism. In vitiligo patients there are conflicting data on its activity and no data on the effect of -262C>T polymorphism in the catalase gene. Blood catalase activity, -262C>T polymorphism and acatalasemia mutations were examined in 75 vitiligo patients and in 162 controls, in Hungary. We measured blood catalase activity and conducted analyses with PCR-SSCP, polyacrylamide gel electrophoresis and silver staining in combination with RFLP and nucleotide sequencing. Comparison of the wild (CC) genotype and the mutant (TT) genotype in the vitiligo patients revealed a non significant (P>0.19) increase in blood catalase. Male controls with the CT genotype had significantly (PT in exon 9) and the 113G>A (exon 9) mutation in Hungary are further proofs of genetic heterogeneity origin of acatalasemia mutations. In conclusion, the -262 C>T polymorphism has a reverse effect on blood catalase in vitiligo patients and in controls. In controls the mutant genotypes and alleles are more frequent in Hungary than in several other populations. The new acatalasemia mutations are further examples of heterogeneity of acatalasemia.

Original languageEnglish
Pages (from-to)4787-4795
Number of pages9
JournalMolecular Biology Reports
Volume39
Issue number4
DOIs
Publication statusPublished - Apr 2012

Fingerprint

Acatalasia
Vitiligo
Hungary
Catalase
Mutation
Genotype
Exons
Single-Stranded Conformational Polymorphism
Silver Staining
Genetic Heterogeneity
Restriction Fragment Length Polymorphisms
Hydrogen Peroxide
Polyacrylamide Gel Electrophoresis
Nucleotides
Alleles
Polymerase Chain Reaction

Keywords

  • Acatalasemia
  • Catalase gene mutations
  • RFLP
  • Screening
  • Vitiligo

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

Cite this

Catalase 2262C>T polymorphisms in Hungarian vitiligo patients and in controls : Further acatalasemia mutations in Hungary. / Kósa, Zsuzsanna; Fejes, Zsolt; Nagy, Teréz; Csordás, Melinda; Simics, Eniko; Remenyik, E.; Góth, L.

In: Molecular Biology Reports, Vol. 39, No. 4, 04.2012, p. 4787-4795.

Research output: Contribution to journalArticle

Kósa, Zsuzsanna ; Fejes, Zsolt ; Nagy, Teréz ; Csordás, Melinda ; Simics, Eniko ; Remenyik, E. ; Góth, L. / Catalase 2262C>T polymorphisms in Hungarian vitiligo patients and in controls : Further acatalasemia mutations in Hungary. In: Molecular Biology Reports. 2012 ; Vol. 39, No. 4. pp. 4787-4795.
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