Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning
H. Zhang
1
,
G S Glukhov
2
,
K B Pustovit
2
,
Yu G Kacher
2
,
V S Rusinova
3
,
I I Kiseleva
4
,
V N Komolyatova
4
,
L M Makarov
4
,
E V Zaklyazminskaya
3
,
Olga S. Sokolova
1, 2
4
Center for Syncopal Conditions and Cardiac Arrhythmias in Children and Adolescents, Federal Medical-Biological Agency of Russia, Moscow, Russia
|
Publication type: Journal Article
Publication date: 2021-07-01
scimago Q4
SJR: 0.161
CiteScore: 1.1
Impact factor: —
ISSN: 00963925, 1934791X
General Biochemistry, Genetics and Molecular Biology
General Agricultural and Biological Sciences
General Environmental Science
Abstract
Abstract For the first time, a patient with asymptomatic QT interval prolongation was found to carry missense mutation c.277G>A (p.Val93Ile) in the KCNJ2 gene, described previously only as the cause of a familial form of atrial fibrillation. The corresponding amino acid substitution was introduced into the plasmid encoding the Kir2.1 channel and the mutant gene was expressed in Chinese hamster ovary cells (CHO-K1) to evaluate the effect of the mutation on I K1 current parameters. Using the whole-cell patch-clamp technique in the voltage clamp mode, the integral I K1 current was studied. The results revealed that the c.277G>A (p.Val93Ile) mutation is implemented according to the gain-of-function type and significantly changes the functioning of the Kir 2.1 channel. The presence of a stable activating effect on protein function argues in favor of the clinical significance of the identified variant.
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Zhang H. et al. Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning // Moscow University Biological Sciences Bulletin. 2021. Vol. 76. No. 3. pp. 142-146.
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Zhang H., Glukhov G. S., Pustovit K. B., Kacher Yu. G., Rusinova V. S., Kiseleva I. I., Komolyatova V. N., Makarov L. M., Zaklyazminskaya E. V., Sokolova O. S. Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning // Moscow University Biological Sciences Bulletin. 2021. Vol. 76. No. 3. pp. 142-146.
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TY - JOUR
DO - 10.3103/S0096392521030056
UR - https://doi.org/10.3103/S0096392521030056
TI - Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning
T2 - Moscow University Biological Sciences Bulletin
AU - Zhang, H.
AU - Glukhov, G S
AU - Pustovit, K B
AU - Kacher, Yu G
AU - Rusinova, V S
AU - Kiseleva, I I
AU - Komolyatova, V N
AU - Makarov, L M
AU - Zaklyazminskaya, E V
AU - Sokolova, Olga S.
PY - 2021
DA - 2021/07/01
PB - Pleiades Publishing
SP - 142-146
IS - 3
VL - 76
SN - 0096-3925
SN - 1934-791X
ER -
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@article{2021_Zhang,
author = {H. Zhang and G S Glukhov and K B Pustovit and Yu G Kacher and V S Rusinova and I I Kiseleva and V N Komolyatova and L M Makarov and E V Zaklyazminskaya and Olga S. Sokolova},
title = {Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning},
journal = {Moscow University Biological Sciences Bulletin},
year = {2021},
volume = {76},
publisher = {Pleiades Publishing},
month = {jul},
url = {https://doi.org/10.3103/S0096392521030056},
number = {3},
pages = {142--146},
doi = {10.3103/S0096392521030056}
}
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Zhang, H., et al. “Phenotypic Manifestations of Val93Ile Missense Mutation and Its Influence on Kir2.1 Channel Functioning.” Moscow University Biological Sciences Bulletin, vol. 76, no. 3, Jul. 2021, pp. 142-146. https://doi.org/10.3103/S0096392521030056.
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