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Loss-of-function mutations in the parachaperone BAG5 lead to dilated cardiomyopathy and ultimately heart failure through impaired quality control of the junctional membrane complex (JMC) protein
.
EC coupling (Excitation-Contraction coupling, excitation-contraction coupling)
Researchers from Osaka University have identified a genetic mutation that may lead to heart failure and could be repaired with gene therapy
The heart is a tireless organ that beats an average of 100,000 times a day
.
However, conditions that prevent the heart from pumping blood efficiently can lead to serious problems that can eventually require a heart transplant
In a study published this month in the prestigious journal Science Translational Medicine, researchers from Osaka University show that a previously unknown mutation may lead to a condition called dilatation The disease of cardiomyopathy, which is one of the main causes of heart failure
.
Heart failure is an incurable condition where the heart is no longer able to meet the body's blood supply needs
.
It is one of the most common causes of death, affects nearly 40 million people worldwide, and is a huge public health problem
The team identified a gene called BAG5 as a novel causative gene for DCM
.
First, they studied patients from different families, emphasizing the association between loss-of-function mutations in the BAG5 gene and DCM
"Here, we found that loss of BAG5 disrupts calcium processing in mouse cardiomyocytes," said Dr.
Hideyuki Hakui, lead author of the study
Dr.
Yoshihiro Asano, the study's senior author, continued: "After demonstrating that BAG5 mutations lead to loss of functional BAG5 protein, we also demonstrated that cardiac function can be restored using the AAV9-BAG5 vector in a mouse model
.
Associated virus (AAV) gene therapy should be further investigated as a possible alternative to heart transplantation in patients with BAG5 deficiency
“Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation,” was published in Science Translational Medicine at DOI:https://doi.
