Abstract
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.
Highlights
The ANO5 gene, which encodes a 913 amino acid integral membrane protein, is highly expressed in skeletal muscle, cardiac muscle, and bone tissues [1,2,3,4]
To breed ANO5 gene-edited rabbits, the heterozygous male was mated with heterozygous female ANO5 gene-edited rabbit (Figure S1A)
To determine whether the disruption of ANO5 in rabbits induces the typical phenotype of cardiomyopathy, the histological and functional cardiac changes were evaluated and compared between gene-edited ANO5 (ANO5+/− and ANO5−/− ) and WT rabbits
Summary
The ANO5 gene, which encodes a 913 amino acid integral membrane protein, is highly expressed in skeletal muscle, cardiac muscle, and bone tissues [1,2,3,4]. Some anoctamins, including ANO1, ANO2, ANO8, and ANO9, have been linked to the regulation of CaCC activities; other anoctamins, such as ANO3 and ANO7, which are short on CaCC activities, have localization in cellular activities [6,11,12]. This suggests that the anoctamin family could possess different functional properties among different family members and that the molecular and cellular mechanisms of the ANO5 gene still remains unclear
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