In a recent study from Penn Medicine, researchers found gene mutations that encode a protein called ANT cause a variety of conditions, including heart disease and weakness of the eye muscles.
They found that ANT is critical for a quality control process called mitophagy that helps to ensure the integrity of the mitochondria network.
Gene mutations that lead to a defective quality control system ultimately cause heart disease.
The study is published in Nature. The lead author is Zoltan Arany, MD, Ph.D., a professor of Cardiovascular Medicine.
Mitochondria are known as the powerhouse of the cell. They generate most of the energy needed to fuel the body’s cells and play an important role in high-energy demanding organs, including the heart and liver.
Quality control mechanisms, including mitophagy help to ensure the mitochondrial network functions properly.
Although the role of mitophagy has been studied, there has been limited information, until now, about the different proteins that participate in mitophagy.
In the study, the team conducted a CRISPR/Cas9 genome-wide screening, using multiple reporter systems and pro-mitophagy triggers.
They found a new and surprising function of ANT.
Although it’s been known the mutations in the ANT gene cause diseases, including cardiomyopathy.
This is a disease that makes it harder for one’s heart to pump blood to the rest of the body.
This research has shown that the mutations do not impact ANT’s ability to produce chemical energy, raising questions about how one would then get a disease.
The team says findings change the way scientists think about the disease-causing mutations and enable them to focus their attention on the right pathway.
Now that scientists know these diseases are caused by defective quality control rather than a lack of energy generation, they can start thinking about treatments that improve quality control.
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