The Genetic Mutation of <i>ANO5</i> in Rabbits Recapitulates Human Cardiomyopathy

The Genetic Mutation of <i>ANO5</i> in Rabbits Recapitulates Human Cardiomyopathy

The limb girdle muscular dystrophy type 2L (LGMD2L) is caused by mutations of the <i>ANO5</i> gene in humans which encodes a 913 amino-acid integral membrane protein. Although cardiomyopathy has been reported in patients with an <i>ANO5</i> mutation, the <i>ANO5</i&g...

Full description

Bibliographic Details
Main Authors: Tingting Sui, Hongwu Yao, Tao Zhang, Jinze Li, Liangxue Lai, Zhanjun Li
Format: Article
Language:English
Published: MDPI AG 2020-07-01
Series:Applied Sciences
Subjects:
CRISPR/Cas9
anoctamin 5
cardiomyopathy
rabbit
Online Access:https://www.mdpi.com/2076-3417/10/14/4976
Description
Summary:The limb girdle muscular dystrophy type 2L (LGMD2L) is caused by mutations of the <i>ANO5</i> gene in humans which encodes a 913 amino-acid integral membrane protein. Although cardiomyopathy has been reported in patients with an <i>ANO5</i> mutation, the <i>ANO5</i> mutant mice did not recapitulate this phenotype in previous studies. This study demonstrated that the <i>ANO5</i><sup>−/−</sup> rabbits recapitulated the typical signs of cardiomyopathy with decreased ejection fraction (EF) and fraction shortening (FS) with increased interstitial fibrosis. This <i>ANO5</i><sup>−/−</sup> rabbit model would promote basic research to comprehend the pathogenesis and mechanism of <i>ANO5</i>-related cardiomyopathy.
ISSN:2076-3417

Similar Items