Yamada_1997_Biochem.Biophys.Res.Commun_236_772

Reference

Title : Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation - Yamada_1997_Biochem.Biophys.Res.Commun_236_772
Author(s) : Yamada Y , Yokota M
Ref : Biochemical & Biophysical Research Communications , 236 :772 , 1997
Abstract : The prevalence of plasma platelet-activating factor (PAF) acetylhydrolase deficiency was investigated in 477 healthy Japanese individuals and 985 patients with various cardiovascular diseases. The genotype for this enzyme with regard to a G994-->T mutation (MM, normal; Mm, heterozygote; mm, mutant homozygote) was determined by an allele-specific polymerase chain reaction in 80 subjects shown to have no or low plasma activity (<10 nmol/min/ml). In 72 subjects, the genotype was consistent with plasma enzyme activity; 44 individuals with no activity were mm, and 28 with low activity were Mm. However, eight subjects with the MM genotype showed plasma enzyme activities of <10 nmol/min/ml. Determination of the DNA sequence of exon 9 of the plasma PAF acetylhydrolase gene in these eight subjects revealed a previously unidentified A1001-->G missense mutation, resulting in a Gln281-->Arg substitution, in a 72-year-old woman with coronary artery disease, essential hypertension, and no plasma enzyme activity. Site-directed mutagenesis in vitro showed that the corresponding recombinant mutant protein lacked PAF acetylhydrolase activity. Thus, the Gln281-->Arg substitution appears responsible for the loss of plasma PAF acetylhydrolase activity.
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PubMedID: 9245731
Gene_locus related to this paper: human-PLA2G7
Arg mutation
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Gene_locus related to this paper: human-PLA2G7

Citations formats

Yamada Y, Yokota M (1997)
Loss of activity of plasma platelet-activating factor acetylhydrolase due to a novel Gln281-->Arg mutation
Biochemical & Biophysical Research Communications 236 :772

Yamada Y, Yokota M (1997)
Biochemical & Biophysical Research Communications 236 :772