A new type of inherited catalase deficiencies: Its characterization and comparison to the Japanese and Swiss type of acatalasemia

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Abstract

Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected. Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. Molecular biological methods were used to compare the previously reported types of catalase deficiencies in Japan and the Hungarian deficiencies. Three mutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to G substitution in intron 7) are responsible for decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet been characterized. These are not the mutations observed in Japan. Changes in lipid and carbohydrate metabolism and the high incidence (12.7%) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inherited catalase deficiency are at risk of atherosclerosis and diabetes mellitus. The Hungarian subjects were detected during screening of a large population for catalase activity; no overt disease state was associated with the deficiencies. We hypothesize that the increased risk of disease may be due to prolonged exposure to elevated levels of blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase.

Original languageEnglish
Pages (from-to)512-517
Number of pages6
JournalBlood Cells, Molecules, and Diseases
Volume27
Issue number2
DOIs
Publication statusPublished - 2001

Fingerprint

Acatalasia
Catalase
Hydrogen Peroxide
Exons
Diabetes Mellitus
Japan
Mutation
Hungary
Carbohydrate Metabolism
Lipid Metabolism
Introns
Atherosclerosis
Incidence
Population
Proteins

Keywords

  • Acatalasemia
  • Catalase
  • Hungarian
  • Hypocatalasemia
  • Mutation

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Hematology

Cite this

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title = "A new type of inherited catalase deficiencies: Its characterization and comparison to the Japanese and Swiss type of acatalasemia",
abstract = "Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected. Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. Molecular biological methods were used to compare the previously reported types of catalase deficiencies in Japan and the Hungarian deficiencies. Three mutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to G substitution in intron 7) are responsible for decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet been characterized. These are not the mutations observed in Japan. Changes in lipid and carbohydrate metabolism and the high incidence (12.7{\%}) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inherited catalase deficiency are at risk of atherosclerosis and diabetes mellitus. The Hungarian subjects were detected during screening of a large population for catalase activity; no overt disease state was associated with the deficiencies. We hypothesize that the increased risk of disease may be due to prolonged exposure to elevated levels of blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase.",
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N2 - Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected. Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. Molecular biological methods were used to compare the previously reported types of catalase deficiencies in Japan and the Hungarian deficiencies. Three mutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to G substitution in intron 7) are responsible for decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet been characterized. These are not the mutations observed in Japan. Changes in lipid and carbohydrate metabolism and the high incidence (12.7%) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inherited catalase deficiency are at risk of atherosclerosis and diabetes mellitus. The Hungarian subjects were detected during screening of a large population for catalase activity; no overt disease state was associated with the deficiencies. We hypothesize that the increased risk of disease may be due to prolonged exposure to elevated levels of blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase.

AB - Thirteen Hungarian families that exhibited inherited catalase deficiencies have been detected. Differences between the deficiencies reported from Hungary and the previously reported Swiss acatalasemia were characterized using biochemical analysis of the catalase proteins. Molecular biological methods were used to compare the previously reported types of catalase deficiencies in Japan and the Hungarian deficiencies. Three mutations (a GA insertion in exon 2, a G insertion in exon 2, and a T to G substitution in intron 7) are responsible for decreased catalase activity in 7 of the 13 Hungarian kindreds; the other 6 families have not yet been characterized. These are not the mutations observed in Japan. Changes in lipid and carbohydrate metabolism and the high incidence (12.7%) of diabetes mellitus in the Hungarian kindreds suggest that individuals with inherited catalase deficiency are at risk of atherosclerosis and diabetes mellitus. The Hungarian subjects were detected during screening of a large population for catalase activity; no overt disease state was associated with the deficiencies. We hypothesize that the increased risk of disease may be due to prolonged exposure to elevated levels of blood hydrogen peroxide due to the lack of normal removal of hydrogen peroxide by blood catalase.

KW - Acatalasemia

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KW - Hypocatalasemia

KW - Mutation

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