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Citations to this article

Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension
José M. Fernández-Fernández, … , Jaume Marrugat, Miguel A. Valverde
José M. Fernández-Fernández, … , Jaume Marrugat, Miguel A. Valverde
Published April 1, 2004
Citation Information: J Clin Invest. 2004;113(7):1032-1039. https://doi.org/10.1172/JCI20347.
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Article Cardiology

Gain-of-function mutation in the KCNMB1 potassium channel subunit is associated with low prevalence of diastolic hypertension

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Abstract

Hypertension is the most prevalent risk factor for cardiovascular diseases, present in almost 30% of adults. A key element in the control of vascular tone is the large-conductance, Ca2+-dependent K+ (BK) channel. The BK channel in vascular smooth muscle is formed by an ion-conducting α subunit and a regulatory β1 subunit, which couples local increases in intracellular Ca2+ to augmented channel activity and vascular relaxation. Our large population-based genetic epidemiological study has identified a new single-nucleotide substitution (G352A) in the β1 gene (KCNMB1), corresponding to an E65K mutation in the protein. This mutation results in a gain of function of the channel and is associated with low prevalence of moderate and severe diastolic hypertension. BK-β1E65K channels showed increased Ca2+ sensitivity, compared with wild-type channels, without changes in channel kinetics. In conclusion, the BK-β1E65K channel might offer a more efficient negative-feedback effect on vascular smooth muscle contractility, consistent with a protective effect of the K allele against the severity of diastolic hypertension.

Authors

José M. Fernández-Fernández, Marta Tomás, Esther Vázquez, Patricio Orio, Ramón Latorre, Mariano Sentí, Jaume Marrugat, Miguel A. Valverde

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Total citations by year

Year: 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 2009 2008 2007 2006 2005 2004 Total
Citations: 2 2 2 3 1 5 5 5 4 5 6 9 7 3 8 9 3 4 4 2 2 91
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article in year 2009 (9)

Title and authors Publication Year
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009
Role of BKbeta1 in Na+ reabsorption by cortical collecting ducts of Na+-deprived mice
PR Grimm, DL Irsik, L Liu, JD Holtzclaw, SC Sansom
American journal of physiology. Renal physiology 2009
Molecular mechanisms of BK channel activation
J Cui, H Yang, US Lee
Cellular and molecular life sciences : CMLS 2009
Hypertension of Kcnmb1-/- is linked to deficient K secretion and aldosteronism
PR Grimm, DL Irsik, DC Settles, JD Holtzclaw, SC Sansom
Proceedings of the National Academy of Sciences 2009
The KCNMB1 E65K variant is associated with reduced central pulse pressure in the community-based Framingham Offspring Cohort
A Kelley-Hedgepeth, I Peter, MC Montefusco, D Levy, EJ Benjamin, RS Vasan, ME Mendelsohn, D Housman, GS Huggins, GF Mitchell
Journal of Hypertension 2009
Single-nucleotide polymorphisms in vascular Ca2+-activated K+-channel genes and cardiovascular disease
R Köhler
Pflügers Archiv - European Journal of Physiology 2009
Gene Expression Patterns in Peripheral Blood Correlate with the Extent of Coronary Artery Disease
PR Sinnaeve, MP Donahue, P Grass, D Seo, J Vonderscher, SD Chibout, WE Kraus, M Sketch, C Nelson, GS Ginsburg, PJ Goldschmidt-Clermont, CB Granger
PloS one 2009
β subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia: Epilepsy/dyskinesia mutation and β subunits of BK channel
US Lee, J Cui
The Journal of Physiology 2009
The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition
SA Serra, N Fernàndez-Castillo, A Macaya, B Cormand, MA Valverde, JM Fernández-Fernández
Pflügers Archiv - European Journal of Physiology 2009

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