Mutation analysis of ABCC9 gene in Japanese patients with coronary spastic angina

Abstract

Coronary artery spasm plays an important role in the etiology of coronary spastic angina (CSA) and other acute coronary syndromes. Mice with a targeted disruption of the ATP‑binding cassette transporter C9- ABCC9 gene were developed as an animal model of CSA. Thus the ABCC9 may be involved in the regulation of coronary artery vasomotility. The aim of this study was to investigate whether mutation in the coding region of the ABCC9 gene is detected in Japanese patients with CSA. The study included 9 Japanese patients with CSA (6 men and 3 women with a mean age of 51±13 years) . Genomic DNA was extracted from the whole blood and Mutation analysis of the coding region of ABCC9 was performed by direct sequencing. In one CSA patient we found a single base substitution (G to A) at nucleotide position 126 in exon 21 of the coding region which was heterozygous and did not cause amino acid substitution (T878T silent mutation) . In the remaining 8 patients no base substitution was detected in the coding region of the ABCC9 gene. The results indicate that the mutation of the ABCC9 gene may not be involved in the genetic pathogenesis of CSA in humans.