Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.

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.

• Authors: L Góth, A Shemirani, T Kalmár
• Journal: Blood cells, molecules & diseases (Blood Cells Mol Dis) Vol. 26 Issue 2 Pg. 151-4 (Apr 2000) ISSN: 1079-9796 [Print] United States
• PMID: 11001624 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Catalase

Topics

• Acatalasia (etiology, genetics)
• Amino Acid Sequence
• Catalase (genetics)
• Humans
• Middle Aged
• Molecular Sequence Data
• Mutation
• Pedigree