Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence

Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associ...

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Autores principales: Mohler, Peter J., Healy, Jane A., Xue, Hui, Puca, Annibale A., Kline, Crystal F., Rand Allingham, R., Kranias, Evangelia G., Rockman, Howard A., Bennett, Vann
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2013943/
https://www.ncbi.nlm.nih.gov/pubmed/17940615
http://dx.doi.org/10.1371/journal.pone.0001051
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author Mohler, Peter J.
Healy, Jane A.
Xue, Hui
Puca, Annibale A.
Kline, Crystal F.
Rand Allingham, R.
Kranias, Evangelia G.
Rockman, Howard A.
Bennett, Vann
author_facet Mohler, Peter J.
Healy, Jane A.
Xue, Hui
Puca, Annibale A.
Kline, Crystal F.
Rand Allingham, R.
Kranias, Evangelia G.
Rockman, Howard A.
Bennett, Vann
author_sort Mohler, Peter J.
collection PubMed
description Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population. Variants associated with less severe clinical and in vitro phenotypes were unexpectedly common. Studies with the ankyrin-B(+/−) mouse reveal both benefits of enhanced cardiac contractility, as well as costs in earlier senescence and reduced lifespan. Together these findings suggest a constellation of traits that we term “ankyrin-B syndrome”, which may contribute to both aging-related disorders and enhanced cardiac function.
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spelling pubmed-20139432007-10-18 Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence Mohler, Peter J. Healy, Jane A. Xue, Hui Puca, Annibale A. Kline, Crystal F. Rand Allingham, R. Kranias, Evangelia G. Rockman, Howard A. Bennett, Vann PLoS One Research Article Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2 (encodes ankyrin-B) variants range from 2 percent of European individuals to 8 percent in individuals from West Africa. Ankyrin-B variants associated with severe human arrhythmia phenotypes (eg E1425G, V1516D, R1788W) were rare in the general population. Variants associated with less severe clinical and in vitro phenotypes were unexpectedly common. Studies with the ankyrin-B(+/−) mouse reveal both benefits of enhanced cardiac contractility, as well as costs in earlier senescence and reduced lifespan. Together these findings suggest a constellation of traits that we term “ankyrin-B syndrome”, which may contribute to both aging-related disorders and enhanced cardiac function. Public Library of Science 2007-10-17 /pmc/articles/PMC2013943/ /pubmed/17940615 http://dx.doi.org/10.1371/journal.pone.0001051 Text en Mohler et al. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Mohler, Peter J.
Healy, Jane A.
Xue, Hui
Puca, Annibale A.
Kline, Crystal F.
Rand Allingham, R.
Kranias, Evangelia G.
Rockman, Howard A.
Bennett, Vann
Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title_full Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title_fullStr Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title_full_unstemmed Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title_short Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
title_sort ankyrin-b syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2013943/
https://www.ncbi.nlm.nih.gov/pubmed/17940615
http://dx.doi.org/10.1371/journal.pone.0001051
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