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Molecular Biology Reports

, Volume 35, Issue 2, pp 119–123 | Cite as

Study of Kir6.2/KCNJ11 gene in a sudden cardiac death pedigree

  • Jun Wan
  • Chenling Xiong
  • Fang Zheng
  • Xin Zhou
  • Congxin Huang
  • Hong Jiang
Original Paper

Abstract

In clinic, the patients with acute myocardial infarction (AMI) are at high risk to develop ischemia-induced ventricular arrhythmias leading to sudden cardiac death (SCD). Some studies suggest that individual susceptibility to ischemia-induced arrhythmia may be related to the genes encoding ion channels. One of them is the cardiac ATP-sensitive potassium channel (KATP), which is an octamer composed of four pore-forming inwardly rectifying potassium-channel subunits (Kir6.2) and four regulatory sulfonylurea-receptor subunits (SUR2A). They play important roles in the physiology and pathophysiology of cardiovascular system by coupling the metabolic state of the cells to cellular electrical activity. So far, some mutations and polymorphisms of Kir6.2/KCNJ11 gene showed significant correlation with type 2 diabetes. But it was not sure whether it was associated with acute myocardial diseases. Hence a complete mutational analysis of Kir6.2/KCNJ11 gene was performed in a pedigree of sudden cardiac death. The complete coding region and the intron–exon boundaries of KCNJ11 were amplified from genomic DNA using polymerase chain reaction (PCR). Direct sequencing was done to identify any mutations and then further confirmed by restriction site polymorphism (RSP) approach. No mutation was detected in the samples analyzed, a common polymorphism K23E (A>G) was noticed in this pedigree and the proband showed a homozygote genotype (G/G). The result suggests that the Kir6.2/KCNJ11 gene is not related to sudden cardiac death in this family.

Keywords

Sudden cardiac death ATP-sensitive potassium channel Kir6.2/KCNJ11 Mutational analysis 

Abbreviations

KATP

ATP-sensitive potassium channel

Kir

Inwardly rectifying potassium-channel

SCD

Sudden cardiac death

SUR

Sulfonylurea-receptor

Notes

Acknowledgements

We would like to thank the family members for their participation in this study. This study has been supported by grants from the National Natural Science Foundation of China (30200107) as well as New Century Scholarship (NCET-05-0621).

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Copyright information

© Springer Science+Business Media, Inc. 2007

Authors and Affiliations

  • Jun Wan
    • 1
  • Chenling Xiong
    • 2
  • Fang Zheng
    • 2
  • Xin Zhou
    • 2
  • Congxin Huang
    • 1
  • Hong Jiang
    • 1
  1. 1.Department of CardiologyRenmin Hospital of Wuhan UniversityWuhanChina
  2. 2.Center for Gene DiagnosisZhongnan Hospital of Wuhan UniversityWuhanChina

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