In a new study from Osaka University, researchers found a previously unknown gene mutation that can cause an incurable heart condition called dilated cardiomyopathy.
This gene, BAC5, is important for the movement of calcium ions in the heart muscle and calcium ions are what drive the pumping of the heart.
The good news is that the investigators also found a way to fix the mutation through a novel gene therapy approach, demonstrating a potential treatment for this devastating disease.
The heart is a tireless organ, beating an average of 100,000 times a day.
However, conditions that stop the heart from pumping blood efficiently can cause serious problems and ultimately require heart transplantation.
In the study, the team found that a previously unknown mutation can lead to a condition called dilated cardiomyopathy, which is one of the main causes of heart failure.
One of the main factors leading to heart failure is a disease called dilated cardiomyopathy (or DCM). DCM is characterized by dilation of the heart’s chambers and a pumping disfunction.
Previous research has shown that DCM is often inherited and has a genetic basis. However, for up to 80% of the familial DCM cases, we still don’t know the genetic mutation causing the disease.
The research team identified a gene called BAG5 as a novel causative gene for DCM. First, they studied patients from different families, highlighting a correlation between loss of function mutations in the BAG5 gene and DCM.
The researchers found that this mutation has a complete penetrance, meaning that 100% of the individuals presenting it will develop the disease.
They then found that mutations that erase the function of BAG5 can cause cardiomyopathy.
The team found BAG5 is important for calcium handling in the heart muscle cells, and calcium is essential for a regular rhythm and overall health of the cardiac muscle, explaining why a loss of BAG5 leads to cardiomyopathy.
They also showed that gene therapy should be further investigated as a possible treatment alternative to heart transplantation for patients who are BAG5 deficient.
AAV gene therapy is an innovative form of therapy aimed at fixing mutated genes in diseases that have a genetic cause like DCM.
If you care about heart health, please read studies about two effective ways to quickly restore normal heart rhythm, and vegetables that may prevent heart disease.
For more information about health, please see recent studies about drug that could prevent respiratory and heart damage in people with COVID-19, and results showing scientists find new way to increase survival in a heart attack.
The study is published in Science Translational Medicine. One author of the study is Dr. Hideyuki Hakui.
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