This study investigates the impact of a novel variant in the BAG5 gene on the endoplasmic reticulum (ER) stress response pathway and its association with dilated cardiomyopathy (DCM) and arrhythmia. The research aims to elucidate the molecular mechanisms by which BAG5 dysfunction contributes to cardiac pathology.
Mice harboring the BAG5 variant exhibited impaired ER stress response, leading to the development of dilated cardiomyopathy and arrhythmias. These findings suggest that BAG5 plays a crucial role in maintaining cardiac function by regulating the ER stress pathway.
The study utilized a genetically engineered mouse model developed in collaboration with genOway. This model carries a specific mutation in the Bag5 gene, introduced via CRISPR/Cas9 technology, to mimic the human variant associated with DCM. The design includes tissue-specific expression of the mutant gene to study its effects on cardiac function.
Dilated cardiomyopathy, Arrhythmia, ER stress response, Cardiovascular diseases, Genetic cardiomyopathies
CRISPR/Cas9 gene editing, Tissue-specific expression, Cardiac-specific promoter, Disease model, Genetic mutation
From model design to experimental results
Tailor-made solutions adapted to scientific questions
Comprehensive dataset package
Generated with biopharma partners and in-house
Scientific follow-up and advice along the project
Collaborative approach for problem solving and development of innovative models
Breeding facilities in US and Europe
Certified health status from professional breeders
