The Genetic Mutation of ANO5 in Rabbits Recapitulates Human Cardiomyopathy

The limb girdle muscular dystrophy type 2L (LGMD2L) is caused by mutations of the ANO5 gene in humans which encodes a 913 amino-acid integral membrane protein. Although cardiomyopathy has been reported in patients with an ANO5 mutation, the ANO5 mutant mice did not recapitulate this phenotype in previous studies. This study demonstrated that the ANO5−/− rabbits recapitulated the typical signs of cardiomyopathy with decreased ejection fraction (EF) and fraction shortening (FS) with increased interstitial fibrosis. This ANO5−/− rabbit model would promote basic research to comprehend the pathogenesis and mechanism of ANO5-related cardiomyopathy.