title: Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia.
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<0.0002) in microcytic anemia, type 2 and gestational diabetes. The four novel mutations were probably responsible for low blood catalase activity in 7/51 patients. In the remainder of the cases, other polymorphisms and epigenetic/regulatory factors may be involved.
authors.affiliation: Department of Medical Laboratory and Diagnostic Imaging, Medical and Health Science Center, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Terez
authors.initials: T
authors.lastname: Nagy
authors.affiliation: Department of Otolaryngology, Medical and Health Science Center, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Erika
authors.initials: E
authors.lastname: Paszti
authors.affiliation: Department of Internal Medicine, Medical and Health Science Center, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Miklos
authors.initials: M
authors.lastname: Kaplar
authors.affiliation: Department of Laboratory Medicine, Medical and Health Science Center, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Harjit Pal
authors.initials: HP
authors.lastname: Bhattoa
authors.affiliation: Department of Medical Laboratory and Diagnostic Imaging, Medical and Health Science Center, Faculty of Medicine, University of Debrecen, Debrecen, Hungary. Electronic address: goth@med.unideb.hu.
authors.forename: Laszlo
authors.initials: L
authors.lastname: Goth
mesh_terms: D020642:Acatalasia / Q000097:blood / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000740:Anemia / Q000097:blood / Q000235:genetics*; D002374:Catalase / Q000097:blood / Q000235:genetics*; D002648:Child; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics*; D044127:Epigenesis, Genetic; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy
chemical_list: D002374:Catalase
keywords: Blood catalase; Catalase decrease; Diabetes mellitus; Microcytic anemia; Mutation screening; Novel catalase exon mutations