Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
Year: 2007
Type: article
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.
Source: PLoS ONE
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,382
Awards: G1073661697, G1106861790, G1161917674, G1270675593, G1276932499, G2903589952, G305818220, Role of spectrin/ankyrin-G complex in myocyte signaling and cardiac excitability, Role of ankyrin-B in human arrhythmia, Calcium Handling in Cardiac Pathophysiology, G463917580, G5127425825, G5469753910, G5479485384, Genetic and Molecular Signaling in Heart Failure, Cardiac Sarcoplasmic Reticulum Calcium Cycling Proteins, G9000029025, G9000074327, G9000109270, G9000162494, G9000257155
OpenAlex ID: W2064924372