A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia

Góth, László; Rass, Péter; Madarasi, Irén

doi:10.1002/1522-2683(200101)22:1<49::aid-elps49>3.0.co;2-w

Cited by 20 publications

(7 citation statements)

References 14 publications

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“…The past two decades have seen reports of increased epidermal oxidative stress in the cutaneous epidermis of vitiligo patients and suggesting that increased prooxidant activities and reduced antioxidant activities can lead to elevated levels of H 2 O 2 [28,29]. The relationships between the polymorphisms of the catalase enzyme and various diseases have been investigated [27].…”

Section: Discussionmentioning

confidence: 99%

“…The human CAT gene is located on chromosome 11p13, spanning 34 kb of genomic DNA consisting of 13 exons and 12 introns [24]. A number of CAT gene Single-Nucleotide Polymorphisms (SNPs) and mutations have been associated with disease manifestations such as catalasemia/hypocatalasemia, hypertension, and type 2 diabetes mellitus in various races [25][26][27][28]. An association has been established between vitiligo and a Single Nucleotide Polymorphism (SNP) in exon 9 of the CAT gene [29].…”

Section: Introductionmentioning

confidence: 99%

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Lack of Association between Catalase Gene Polymorphism and Susceptibility to Vitiligo in an Egyptian Population

Younes¹,

Mohammed²,

Tawfik³

et al. 2014

Pigmentary Disorders

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Background: Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and accumulation of hydrogen peroxide (H 2 O 2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Egyptian population. Materials and methods: Thirty patients with vitiligo and twenty gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: The CAT gene-89A>T and 389C>T genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. Conclusions: We found no association between CAT gene-89A>T and 389C>T polymorphism and vitiligo susceptibility in Egyptian vitiligo patients. Further studies with greater sample size should be performed to verify these results.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Lack of Association between Catalase Gene Polymorphism and Susceptibility to Vitiligo in an Egyptian Population

Younes¹,

Mohammed²,

Tawfik³

et al. 2014

Pigmentary Disorders

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“…The relationship between the polymorphisms of the catalase enzyme and various diseases have been investigated (Góth et al, 2001). The C/T endemic polymorphism in the initial part of the catalase enzyme is effective in binding transcription factors.…”

Section: Discussionmentioning

confidence: 99%

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Bulut¹,

Pehlivan²,

Alper³

et al. 2011

Genet. Mol. Res.

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ABSTRACT. Accumulation of hydrogen peroxide (H 2 O 2 ) and low catalase (CAT) activity have been demonstrated in the epidermis of vitiligo patients. We investigated a possible association between the CAT exon 9 (Asp-389) gene and vitiligo susceptibility in the Turkish population. Thirty-four patients with vitiligo and 49 gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by PCR-RFLP. The CAT exon 9 (Asp-389) genotype and allele frequencies of vitiligo patients did not differ significantly from those of ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 10 (4): 4126-4132 (2011) Catalase gene polymorphisms and vitiligo 4127 healthy controls. We found no association between CAT (Asp-389) gene polymorphism and vitiligo susceptibility in Turkish vitiligo patients.

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“…PCR-SSCP and PCR heteroduplex mutation screening was useful for the detection of catalase gene mutations in hereditary catalase deficiencies in Hungarian patients (12)(13)(14)16).…”

Section: Discussionmentioning

confidence: 99%

“…Insertion of a G at position 79 of exon 2 was detected in one hypocatalasemic type 2 diabetes mellitus patient. These mutations in exon 2 (at 79 or 138) may be part of the descriptive link between catalase deficiency and diabetes for the majority (62.5%, i.e., 5 of 8) of the type 2 diabetic hypo/acatalasemic patients (12)(13)(14)(15). Other mutations were detected in the 59 promoter region of the catalase gene, but appeared to be benign polymorphisms with no association with diabetes mellitus (16).…”

Section: Introductionmentioning

confidence: 99%

Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus

Vitai¹,

Fátrai²,

Rass³

et al. 2005

Clinical Chemistry and Laboratory Medicine (CCLM)

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Background: The enzyme catalase is the main regulator of hydrogen peroxide metabolism. Deficiency of catalase may cause high concentrations of hydrogen peroxide and increase the risk of the development of pathologies for which oxidative stress is a contributing factor, for example, type 2 diabetes mellitus. Catalase deficiency has been reported to be associated with increased frequency of diabetes mellitus in a cohort of patients in Hungary. In this cohort, the majority of mutations in the catalase gene occur in exon 2. Methods: Type 2 diabetic patients (ns308) were evaluated for mutations in intron 1 (81 bp), exon 2 (172 bp) and intron 2 (13 bp) of the catalase gene. Screening for mutations utilized PCR single-strand conformational polymorphism (SSCP) and PCR heteroduplex methods. Verification of detected mutations was by nucleotide sequence analysis. Results: A total of 11 catalase gene mutations were detected in the 308 subjects (3.57%, p-0.001). Five of the 11 were at two previously reported mutation sites: exon 2 (79) G insertion and (138) GA insertion. Six of the 11 were at five previously unreported catalase mutation sites: intron 1 (60) G™T; intron 2 (7) G™A and (5) G™C; exon 2 (96) T™A; and exon 2 (135) T™ A. The novel missense mutations on exon 2 (96 and 135) are associated with 59% and 48% decreased catalase activity, respectively; the novel G™C mutation on intron 2 (5) is associated with a 62% decrease in catalase activity. Mutations detected on intron 1 (60) and intron 2 (7) showed no change in catalase activity. The G™C mutation on intron 2 (5) might be a splicing mutation. The two missense mutations on exon 2 (96) and (135) cause substitutions of amino acids 53 (Asp™Glu) and 66 (Glu™Cys) of the catalase protein.These are close to amino acids that are important for the binding of heme to catalase, 44 (Val) and [72][73][74][75]

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A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia

Cited by 20 publications

References 14 publications

Lack of Association between Catalase Gene Polymorphism and Susceptibility to Vitiligo in an Egyptian Population

Lack of Association between Catalase Gene Polymorphism and Susceptibility to Vitiligo in an Egyptian Population

Lack of association between catalase gene polymorphism (T/C exon 9) and susceptibility to vitiligo in a Turkish population

Simple PCR heteroduplex, SSCP mutation screening methods for the detection of novel catalase mutations in Hungarian patients with type 2 diabetes mellitus

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