Further Characterization of Hungarian Acatalasemia by Hinf1 Polymorphism of Catalase Gene

Góth, László; Alizadeh, B. N.; Sussman, Howard H.

doi:10.1159/000468671

Enzyme Protein

1993

DOI: 10.1159/000468671

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Further Characterization of Hungarian Acatalasemia by Hinf1 Polymorphism of Catalase Gene

László Góth

B. N. Alizadeh

Howard H. Sussman

Abstract: An Hinf1 associated restriction length polymorphism pattern is reported for the catalase gene of Hungarian normocatalasemic individuals and acatalasemie patients. The 2.4-kb pCAT 10 probe revealed 9 bands (2.1, 1.5, 1.2, 1.1, 0.9, 0.8, 0.6, 0.5 and 0.4 kb) with 9 distinct patterns for the controls. The same patterns were detected for the Hungarian acatalasemie patients. The examination of the A to T mutation of the Hungarian acatalasemie patients and their relatives at position -21 in the flanking region with … Show more

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1997

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Cited by 4 publications

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Polymorphism of 5′ of the catalase gene in Hungarian acatalasemia and hypocatalasemia

Góth

Vitai²

1997

Electrophoresis

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The amplified fragment length polymorphism of Hinf1 on the promoter region of the catalase gene in Hungarian acatalasemic and hypocatalasemic patients yielded three different patterns with five bands in total. The sequence analyses revealed A-to-T, C-to-A, and C-to-T mutations at positions -21, -20, and -18 upstream of the translational initiation site. The -21 A-to-T mutations were more frequent in acatalasemic and hypocatalasemic patients (36/2) than in controls (18/14). This mutation had been detected in Japanese acatalasemic patients while the other two are novel mutations. Two extra bands in the Hinf1 pattern are due to star-like activity that cleaved a G/ATTT sequence at position -4 to 0 upstream of the initiation site.

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Polymorphism of 5′ of the catalase gene in Hungarian acatalasemia and hypocatalasemia

Góth

Vitai²

1997

Electrophoresis

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A New Type of Inherited Catalase Deficiencies: Its Characterization and Comparison to the Japanese and Swiss Type of Acatalasemia

Góth

2001

Blood Cells, Molecules, and Diseases

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Catalase enzyme mutations and their association with diseases

Góth

Rass²,

Páy

2004

Molecular Diagnosis

199

117

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Enzyme catalase seems to be the main regulator of hydrogen peroxide metabolism. Hydrogen peroxide at high concentrations is a toxic agent, while at low concentrations it appears to modulate some physiological processes such as signaling in cell proliferation, apoptosis, carbohydrate metabolism, and platelet activation. Benign catalase gene mutations of 5' noncoding region (15) and intron 1 (4) have no effect on catalase activity and are not associated with disease. Catalase gene mutations have been detected in association with diabetes mellitus, hypertension, and vitiligo. Decreases in catalase activity in patients with tumors is more likely to be due to decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited deficiency of catalase has been detected in 11 countries. Its clinical features might be oral gangrene, altered lipid, carbohydrate, homocysteine metabolism and the increased risk of diabetes mellitus. The Japanese, Swiss, and Hungarian types of acatalasemia display differences in biochemical and genetic aspects. However, there are only limited reports on the syndrome causing these mutations. These data show that acatalasemia may be a syndrome with clinical, biochemical, genetic characteristics rather than just a simple enzyme deficiency.

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Further Characterization of Hungarian Acatalasemia by Hinf1 Polymorphism of Catalase Gene

Cited by 4 publications

References 8 publications

Polymorphism of 5′ of the catalase gene in Hungarian acatalasemia and hypocatalasemia

Polymorphism of 5′ of the catalase gene in Hungarian acatalasemia and hypocatalasemia

A New Type of Inherited Catalase Deficiencies: Its Characterization and Comparison to the Japanese and Swiss Type of Acatalasemia

Catalase enzyme mutations and their association with diseases

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