Mutations in the gene that encodes a protein called ANT cause a variety of conditions, such as heart disease, but the underlying mechanism of how these mutations trigger disease has been unclear. Researchers discovered that ANT is critical for a quality control process called mitophagy — which helps to ensure the integrity of the mitochondria network — and found that mutations that lead to a defective quality control system cause heart disease.
Failure of mitochondrial quality control causes heart disease
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