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The Genetic Mutation of ANO5 in Rabbits Recapitulates Human Cardiomyopathy
- Source :
- Applied Sciences, Vol 10, Iss 4976, p 4976 (2020)
- Publication Year :
- 2020
- Publisher :
- MDPI AG, 2020.
-
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.
- Subjects :
- 0301 basic medicine
Mutant
Cardiomyopathy
rabbit
Biology
medicine.disease_cause
lcsh:Technology
Pathogenesis
lcsh:Chemistry
03 medical and health sciences
0302 clinical medicine
medicine
General Materials Science
Instrumentation
Gene
Integral membrane protein
CRISPR/Cas9
lcsh:QH301-705.5
Fluid Flow and Transfer Processes
Mutation
lcsh:T
Process Chemistry and Technology
General Engineering
anoctamin 5
medicine.disease
Molecular biology
Phenotype
lcsh:QC1-999
Computer Science Applications
030104 developmental biology
lcsh:Biology (General)
lcsh:QD1-999
lcsh:TA1-2040
lcsh:Engineering (General). Civil engineering (General)
cardiomyopathy
030217 neurology & neurosurgery
lcsh:Physics
Limb-girdle muscular dystrophy
Subjects
Details
- Language :
- English
- ISSN :
- 20763417
- Volume :
- 10
- Issue :
- 4976
- Database :
- OpenAIRE
- Journal :
- Applied Sciences
- Accession number :
- edsair.doi.dedup.....c529ef37704590b03c28613c3bc7495a