Catalase −262C>T polymorphisms in Hungarian vitiligo patients and in controls: further acatalasemia mutations in Hungary

• Published in: Molecular biology reports 2012-04, Vol.39 (4), p.4787-4795
• Main Authors: Kósa, Zsuzsanna, Fejes, Zsolt, Nagy, Teréz, Csordás, Melinda, Simics, Enikő, Remenyik, Éva, Góth, László
• Format: Article
• Language: English
• Subjects: Acatalasia - blood; Acatalasia - complications; Acatalasia - enzymology; Acatalasia - genetics; Adolescent; Adult; Aged; Animal Anatomy; Animal Biochemistry; Base Sequence; Biomedical and Life Sciences; Case-Control Studies; Catalase - blood; Catalase - genetics; Child; Child, Preschool; Dermatology; DNA Mutational Analysis; Enzymes; Female; Gene Frequency - genetics; Genetic Predisposition to Disease; Genotype & phenotype; Histology; Humans; Hungary; Life Sciences; Male; Middle Aged; Molecular Sequence Data; Morphology; Mutation; Mutation - genetics; Odds Ratio; Pedigree; Polymorphism; Polymorphism, Restriction Fragment Length - genetics; Polymorphism, Single Nucleotide - genetics; Polymorphism, Single-Stranded Conformational - genetics; Skin diseases; Vitiligo - blood; Vitiligo - complications; Vitiligo - enzymology; Vitiligo - genetics; Young Adult
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-011-1272-6

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 ( P  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.