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.
Duke Scholars
Altmetric Attention Stats
Dimensions Citation Stats
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Syndrome
- Risk
- Phenotype
- Myocardial Contraction
- Mice, Inbred C57BL
- Mice
- Humans
- Heart Diseases
- General Science & Technology
- Echocardiography
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Syndrome
- Risk
- Phenotype
- Myocardial Contraction
- Mice, Inbred C57BL
- Mice
- Humans
- Heart Diseases
- General Science & Technology
- Echocardiography