A mutation in plasma platelet-activating factor acetylhydrolase (Val279--Phe) is a genetic risk factor for stroke
| Autor: | M. Hiramoto, Kei Satoh, Tadaatsu Imaizumi, Nobuhiro Yoshimizu, Hidemi Yoshida |
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| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
Pathology PAF acetylhydrolase Nonsense mutation Phospholipases A chemistry.chemical_compound Gene Frequency Reference Values Risk Factors Internal medicine Blood plasma medicine Prevalence Missense mutation Humans Amino Acid Sequence Risk factor Stroke Aged Advanced and Specialized Nursing Platelet-activating factor business.industry Intracranial Embolism and Thrombosis Middle Aged medicine.disease Thrombosis Cerebrovascular Disorders Endocrinology chemistry 1-Alkyl-2-acetylglycerophosphocholine Esterase Mutation Neurology (clinical) Cardiology and Cardiovascular Medicine business |
| Zdroj: | Stroke. 28(12) |
| ISSN: | 0039-2499 |
| Popis: | Background and Purpose Platelet-activating factor (PAF) is a phospholipid with multiple actions that include thrombosis and inflammation. It is inactivated by a plasma enzyme, PAF acetylhydrolase. Deficiency of this enzyme in plasma is caused by a missense mutation in the gene (Val 279 →Phe). We have studied a possible association of this mutation with the risk of stroke. Subjects and Methods We studied 120 consecutive patients with cerebral thrombosis. The control group consisted of 134 patients matched for age and sex with minor complaints but without stroke. Genomic DNA was analyzed for the mutant allele by a specific polymerase-chain reaction. Plasma PAF acetylhydrolase activity was determined by the method of Stafforini et al. Results The prevalence of the mutant gene was 43.4% in stroke patients (39.2% heterozygotes and 4.2% homozygotes), which was significantly higher than the 25.4% in control subjects (22.4% heterozygotes and 3.0% homozygotes) (χ 2 =9.22, P Conclusions These results suggest that plasma PAF acetylhydrolase deficiency may be a risk factor for stroke. This may explain the relatively high prevalence of stroke in Japan, as the mutation is more common among Japanese than Caucasians. |
| Databáze: | OpenAIRE |
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