계명대학교 의학도서관 Repository

Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome.

Metadata Downloads
Author(s)
Young Soo LeeMichael A OlaopaByung Chun JungSang Hee LeeDong Gu ShinHyoung Seob ParkYongkeun ChoSang Mi HanMyung Hoon LeeYoon Nyun Kim
Keimyung Author(s)
Kim, Yoon NyunPark, Hyoung Seob
Department
Dept. of Internal Medicine (내과학)
Journal Title
Korean Circulation Journal
Issued Date
2016
Volume
46
Issue
1
Keyword
SCN5A proteinhumanPolymorphismsingle nucleotideSick sinus syndrome
Abstract
Background and Objectives: Due to recent studies that have shown an association between the genetic variation of SCN5A and sick sinus
syndrome (SSS), we sought to determine if a similar correlation existed in Korean patients with SSS.
Subjects and Methods: We enrolled 30 patients with SSS who showed a sinus pause (longer than 3.0 s) in Holter monitoring, in addition
to 80 controls. All exons including the putative splicing sites of the SCN5A gene were amplified by polymerase chain reaction and
sequenced either directly or following subcloning. Wild-type and single nucleotide polymorphisms were expressed in human embryonic
kidney cells, and the peak sodium current (INa) was analyzed using the whole-cell patch-clamp technique.
Results: A total of 9 genetic variations were identified: 7 variations (G87A-A29A, IVS9-3C>A, A1673G-H558R, G3823A-D1275N, T5457CD1819D,
T5963G-L1988R, and C5129T-S1710L) had been previously reported, and 2 variants (A3075T-E1025D and T4847A-F1616Y) were
novel; the potential structural effects of F1616Y were analyzed in a three-dimensional model of the SCN5A domain. Patch-clamp studies
at room temperature demonstrated that the peak INa was significantly increased by 140% in HEK cells transfected with F1616Y compared
with wild-type (-335.13 pA/pF±24.04, n=8 vs. -139.95 pA/pF±23.76, n=7, respectively). Furthermore, the voltage dependency of the
activation and steady-state inactivation of F1616Y were leftward-shifted compared with wild-type (Vh activation=-55.36 mv±0.22, n=8
vs. Vh activation=-44.21 mV±0.17, n=7; respectively; Vh inactivation=-104.47 mV±0.21, n=7 vs. Vh inactivation=-84.89 mV±0.09, n=12,
respectively).
Conclusion: F1616Y may be associated with SSS.
Keimyung Author(s)(Kor)
박형섭
김윤년
Publisher
School of Medicine
Citation
Young Soo Lee et al. (2016). Genetic Variation of SCN5A in Korean Patients with Sick Sinus Syndrome. Korean Circulation Journal, 46(1), 63–71. doi: 10.4070/kcj.2016.46.1.63
Type
Article
ISSN
1738-5520
DOI
10.4070/kcj.2016.46.1.63
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/33209
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Internal Medicine (내과학)
공개 및 라이선스
  • 공개 구분공개
파일 목록

Items in Repository are protected by copyright, with all rights reserved, unless otherwise indicated.