ankyrin-b syndrome enhanced cardiac function balanced by risk of cardiac death and premature senescenceankyrin-b综合症增强心脏功能平衡的心脏死亡的风险和过早衰老.pdfVIP

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ankyrin-b syndrome enhanced cardiac function balanced by risk of cardiac death and premature senescenceankyrin-b综合症增强心脏功能平衡的心脏死亡的风险和过早衰老.pdf

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ankyrin-b syndrome enhanced cardiac function balanced by risk of cardiac death and premature senescenceankyrin-b综合症增强心脏功能平衡的心脏死亡的风险和过早衰老

Ankyrin-B Syndrome: Enhanced Cardiac Function Balanced by Risk of Cardiac Death and Premature Senescence 1,2 4,9 5,9 7 1,2 6 8 Peter J. Mohler *, Jane A. Healy , Hui Xue , Annibale A. Puca , Crystal F. Kline , R. Rand Allingham , Evangelia G. Kranias , Howard A. Rockman3,5, Vann Bennett3,4,9* 1 Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America, 2 Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, Iowa, United States of America, 3 Department of Cell Biology, Duke University Medical Center, Durham, North Carolina, United States of America, 4 Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, United States of America, 5 Department of Medicine, Duke University Medical Center, Durham, North Carolina, United States of America, 6 Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, United States of America, 7 Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico MultiMedica, Milan, Italy, 8 Department of Pharmacology and Cell Biophysics, University of Cincinnati College of Medicine, Cincinnati, Ohio, United States of America, 9 Howard Hughes Medical Institute, Duke University Medical Center, Durham, North Carolina, United States of America 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