Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence
Copyright policy )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 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.
- National University of Singapore Singapore
- University of Iowa United States
- Roy J. and Lucille A. Carver College of Medicine United States
- Duke Medical Center United States
- University of Cincinnati United States
Aging, senescence, genotype, animal cell, heart disease, Mice, heart function, heart contraction, genetic variability, echocardiography, animal, genetics, heart death, Cellular Senescence, cell aging, premature aging, C57BL mouse, Q, article, R, risk assessment, methodology, phenotypic variation, Syndrome, unclassified drug, Europe, Death, female, Phenotype, Echocardiography, Medicine, disease severity, lifespan, Research Article, Ankyrins, Risk, 570, in vitro study, Heart Diseases, phenotype, Science, animal experiment, prevalence, heart arrhythmia, 610, heart muscle cell, ankyrin, death, ANK2 protein, Animals, Humans, controlled study, human, mouse, heart muscle contractility, nonhuman, human cell, disease association, aging, nucleotide sequence, Myocardial Contraction, Mice, Inbred C57BL, Africa, physiology, pathology, ankyrin b
Aging, senescence, genotype, animal cell, heart disease, Mice, heart function, heart contraction, genetic variability, echocardiography, animal, genetics, heart death, Cellular Senescence, cell aging, premature aging, C57BL mouse, Q, article, R, risk assessment, methodology, phenotypic variation, Syndrome, unclassified drug, Europe, Death, female, Phenotype, Echocardiography, Medicine, disease severity, lifespan, Research Article, Ankyrins, Risk, 570, in vitro study, Heart Diseases, phenotype, Science, animal experiment, prevalence, heart arrhythmia, 610, heart muscle cell, ankyrin, death, ANK2 protein, Animals, Humans, controlled study, human, mouse, heart muscle contractility, nonhuman, human cell, disease association, aging, nucleotide sequence, Myocardial Contraction, Mice, Inbred C57BL, Africa, physiology, pathology, ankyrin b
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