Mutation T/C, Ile 131 of the Gene Encoding the Alfa Subunit of the Human Gs Protein and Predisposition to Vasovagal Syncope

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Background Mutation T/C inside codon 131 of the gene encoding the α subunit of Gs protein (GNAS1) causes the increased activation of adenyl cyclase, which plays an important role in cardiovascular regulation. The aim of the present study was to evaluate GNAS1 T/C, Ile 131 mutation's manifestation in syncopal patients regarding head-up tilt test (HUTT) results. Methods and Results In 137 syncopal patients (without any other diseases) the silent T/C, Ile 131 mutation within the GNAS1 codon on chromosome 20 q was identified. This mutation consists of the presence (+) or absence (-) of a target site for endonuclease Fokl (Promega). Ninety-six patients (70%) with positive HUTT had a higher FokI+ allele frequency compared with those with negative tilting results (49% vs 27%, X^2=12.05; p< 0.001). In positive tilted patients, the studied mutation had significant influence on blood pressure (p<0.05). When comparing positive HUTT with vasodepressore component, cardioinhibition results and negative HUTT, the frequencies of the FokI+ allele were decreased among these groups: 53%, 36% and 27%, respectively. Conclusions An association between positive tilting and mutation C/T, Ile 131 within the GNAS1 codon was found. The predisposition to vasovagal syncope seems to be associated with the GNAS1 FokI+ allele.
2008-03-20