Ankyrin-B syndrome: Enhanced cardiac function balance by risk of cardiac death and premature senescence

Peter J. Mohler, Jane A. Healy, Hui Xue, Annibale A. Puca, Crystal F. Kline, R. Rand Allingham, Evangelia G. Kranias, Howard A. Rockman, Vann Bennett

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article numbere1051
JournalPLoS One
Volume2
Issue number10
DOIs
Publication statusPublished - Oct 17 2007

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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