A novel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia

László Góth, Amir Shemirani, Tibor Kalmár

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Acatalasemia, a deficiency of enzyme catalase, is an autosomal recessive syndrome with an incidence of 5:106 in Hungary. We have examined the first Hungarian acatalasemic family for the disease-causing mutation. All exons of the catalase gene were screened by PCR-SSCP, PCR-heteroduplex, and nucleotide sequence analysis. The heteroduplex formation detected in exon 2 was verified by nucleotide sequence analysis. We found a GA insertion at nucleotide position 138, increasing the GA repeat number from 4 to 5. This GA insertion caused a frameshift in the amino acid sequence from position 68 to 133 and generated a TGA terminating codon at amino acid position 134. This truncated protein lacks the essential amino acid (histidine 74) in the active center. This finding can explain the decreased blood catalase activity in the Hungarian acatalasemic family. (C) 2000 Academic Press.

Original languageEnglish
Pages (from-to)151-154
Number of pages4
JournalBlood Cells, Molecules, and Diseases
Volume26
Issue number2
DOIs
Publication statusPublished - Apr 2000

Keywords

  • Acatalasemia
  • Catalase
  • GA insertion
  • Mutation

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology
  • Hematology
  • Cell Biology

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