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

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  • Shibutani Shuji
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Osanai Tomohiro
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Ohya Humie
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Sagara Shigeki
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Izumiyama Kei
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Yamamoto Yuko
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Hanada Kenji
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Tomita Hirofumi
    Department of Cardiology, Hirosaki University Graduate School of Medicine
  • Okumura Ken
    Department of Cardiology, Hirosaki University Graduate School of Medicine

Bibliographic Information

Other Title
  • 日本人冠攣縮性狭心症患者における ABCC9遺伝子変異の有無の解析
  • Mutation Analysis ABCC9 Gene in Japanese Patients with Coronary Spastic Angina

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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.

Journal

  • Hirosaki Medical Journal

    Hirosaki Medical Journal 62 (1), 27-33, 2011

    Hirosaki University Graduate School of Medicine,Hirosaki Medical Society

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