Journal
JACC-BASIC TO TRANSLATIONAL SCIENCE
Volume 4, Issue 2, Pages 204-221Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.jacbts.2018.12.001
Keywords
chromatin remodeling; dilated cardiomyopathy; inner nuclear membrane; LEMD2; sudden death
Categories
Funding
- Care4Rare Canada Consortium - Genome Canada
- Canadian Institutes of Health Research
- Ontario Genomics Institute
- Genome Quebec
- Genome British Columbia
- McLaughlin Centre
- Alberta Innovates Health Solutions [201200822]
- Canadian Institutes of Health Research [FRN: 123351]
- Libin Cardiovascular Institute of Alberta
- German Ministry of Education and Research, Berlin, Germany [01EO1504]
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Nuclear envelope proteins have been shown to play an important role in the pathogenesis of inherited dilated cardiomyopathy. Here, we present a remarkable cardiac phenotype caused by a homozygous LEMD2 mutation in patients of the Hutterite population with juvenile cataract. Mutation carriers develop arrhythmic cardiomyopathy with mild impairment of left ventricular systolic function but severe ventricular arrhythmias leading to sudden cardiac death. Affected cardiac tissue from a deceased patient and fibroblasts exhibit elongated nuclei with abnormal condensed heterochromatin at the periphery. The patient fibroblasts demonstrate cellular senescence and reduced proliferation capacity, which may suggest an involvement of LEM domain containing protein 2 in chromatin remodeling processes and premature aging. (C) 2019 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation.
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