ALU transposition induces familial hypertrophic cardiomyopathy.

Landry E NfonsamLijia HuangNancy CarsonJean McGowan-JordanMelanie Beaulieu BergeronSharan GoobieSusan ConacherDavid McCartyLee BensonStacy HewsonLaura ZahavichElizabeth Sinclair-BourqueAmanda SmithRyan PotterMahdi GhaniLucas BronickiOlga Jarinova

Published in: Molecular genetics & genomic medicine (2019)

Our results demonstrate that haploinsufficiency resulting from MYBPC3 complete deletion, potentially mediated by Alu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM.

Keyphrases

hypertrophic cardiomyopathy
copy number
left ventricular
mitochondrial dna
end stage renal disease
newly diagnosed
ejection fraction
heart failure
chronic kidney disease
dna damage
dna methylation
early onset
gene expression
dna repair
atrial fibrillation