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Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.

Publication ,  Journal Article
Mohler, PJ; Healy, JA; Xue, H; Puca, AA; Kline, CF; Allingham, RR; Kranias, EG; Rockman, HA; Bennett, V
Published in: PLoS One
October 17, 2007

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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Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

October 17, 2007

Volume

2

Issue

10

Start / End Page

e1051

Location

United States

Related Subject Headings

  • Syndrome
  • Risk
  • Phenotype
  • Myocardial Contraction
  • Mice, Inbred C57BL
  • Mice
  • Humans
  • Heart Diseases
  • General Science & Technology
  • Echocardiography
 

Citation

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Mohler, P. J., Healy, J. A., Xue, H., Puca, A. A., Kline, C. F., Allingham, R. R., … Bennett, V. (2007). Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. PLoS One, 2(10), e1051. https://doi.org/10.1371/journal.pone.0001051
Mohler, Peter J., Jane A. Healy, Hui Xue, Annibale A. Puca, Crystal F. Kline, R Rand Allingham, Evangelia G. Kranias, Howard A. Rockman, and Vann Bennett. “Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.PLoS One 2, no. 10 (October 17, 2007): e1051. https://doi.org/10.1371/journal.pone.0001051.
Mohler PJ, Healy JA, Xue H, Puca AA, Kline CF, Allingham RR, et al. Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. PLoS One. 2007 Oct 17;2(10):e1051.
Mohler, Peter J., et al. “Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence.PLoS One, vol. 2, no. 10, Oct. 2007, p. e1051. Pubmed, doi:10.1371/journal.pone.0001051.
Mohler PJ, Healy JA, Xue H, Puca AA, Kline CF, Allingham RR, Kranias EG, Rockman HA, Bennett V. Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence. PLoS One. 2007 Oct 17;2(10):e1051.

Published In

PLoS One

DOI

EISSN

1932-6203

Publication Date

October 17, 2007

Volume

2

Issue

10

Start / End Page

e1051

Location

United States

Related Subject Headings

  • Syndrome
  • Risk
  • Phenotype
  • Myocardial Contraction
  • Mice, Inbred C57BL
  • Mice
  • Humans
  • Heart Diseases
  • General Science & Technology
  • Echocardiography