D85N, a KCNE1 Polymorphism, Is a Disease-Causing Gene Variant in Long QT Syndrome
Yukiko Nishio, MD*,
Takeru Makiyama, MD, PhD*,
Hideki Itoh, MD, PhD ,
Tomoko Sakaguchi, MD, PhD,
Seiko Ohno, MD, PhD*,
Yin-Zhi Gong, MD, PhD,
Satoshi Yamamoto, MD ,
Tomoya Ozawa, MD, PhD,
Wei-Guang Ding, MD, PhD ,
Futoshi Toyoda, PhD,
Mihoko Kawamura, MD,
Masaharu Akao, MD, PhD*,
Hiroshi Matsuura, MD, PhD,
Takeshi Kimura, MD, PhD*,
Toru Kita, MD, PhD* and
Minoru Horie, MD, PhD,*
* Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan
Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Shiga, Japan
Department of Physiology, Shiga University of Medical Science, Shiga, Japan
Third Department of Internal Medicine, Osaka Medical College, Osaka, Japan
View larger version (30K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 2 Functional Expression of KCNQ1 With KCNE1-D85N in Chinese Hamster Ovarian Cells
(A) Representative current traces of KCNQ1 coexpression with the wild-type (WT) or D85N KCNE1. (a) KCNQ1 (1 µg) plus WT KCNE1 (1 µg). (b) KCNQ1 (1 µg) plus D85N KCNE1 (1 µg). (B and C) Functional consequences of KCNQ1 coexpression with the WT or D85N KCNE1 ([B] activation curve; [C] normalized activation curve). Solid circles indicate the mean peak current densities from 21 cells that have been transfected with KCNQ1 and WT KCNE1 (1 µg of each), and open circles indicate the mean peak current densities from 25 cells that have been transfected with KCNQ1 and D85N KCNE1 (1 µg of each). Solid triangles show those obtained from 25 cells that were transfected with KCNQ1 alone (1 µg).
|
|
View larger version (29K):
[in this window]
[in a new window]
[Download PPT slide]
|
Figure 3 Functional Expression of KCNH2 With KCNE1-D85N in Chinese Hamster Ovarian Cells
(A) Representative current traces of KCNH2 coexpression with the wild-type (WT) or D85N KCNE1. (a) KCNH2 (1 µg) plus WT KCNE1 (1 µg). (b) KCNH2 (1 µg) plus D85N KCNE1 (1 µg). (B and C) Functional consequences of KCNH2 coexpression with the WT or D85N of KCNE1 ([B] activation curve; [C] normalized activation curve). Solid circles indicate data from 23 cells that were transfected with KCNH2 and WT KCNE1 (1 µg of each). Open circles indicate data from 20 cells that were transfected with KCNH2 and D85N KCNE1 (1 µg of each).
|
|
|
