Penn Medicine combines a study of mutation in mitochondria protein to heart disease

Penn Medicine combines a study of mutation in mitochondria protein to heart disease

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Researchers at Perelman Medical School found that mutations in ANT protein can lead to heart disease.

Credit: Sukhmani Kaur

Researchers at the Perelman School of Medicine recently studied heart disease linking to the inability of the damaged mitochondria body, Penn Medicine News reported.

The study, published in Nature, found that a protein called transponder adenine nucleotide (ANT) is needed to remove damaged mitochondria from the body in a process called mitophagy. Mutations in this protein prevent the ANT from making a derogation, leading to heart disease.

Mitochondria are small cellular organisms that generate most of their body energy. They are particularly important for demanding high energy organs such as heart and liver. A variety of quality control mechanisms ensure that mitochondria are defective so that the network can function properly.

While previous research has shown that LCA is associated with heart disease, the reason for this was not clear. Many researchers felt that mutations in ANT blocked the production of chemical energy mitochondria for cells, Penn Medicine News reported. However, the results from Penn Medicine showed that ANT mutations do not affect the production of chemical energy at all, and that the negative consequences are actually due to a cushion interference.

The research team carried out their studies using the CRISPR-Cas9 genome screening, Penn Pennine News. This technique uses proteins from bacteria to remove and edit target genes with high accuracy. Using this approach, the researchers found that mutations in LCAs affect derogation in many types of cells, a system that is completely independent of the role of ANT in energy production.

CRISPR-Cas9 was used in many previous studies on Penn Med. This year, Penn Med used the technique to treat cancer patients in the first CRISPR human test in the United States.

The authors of the study said it hoped that their work will help researchers find ways to correct the mitigation and change mutations.

"Now that we know that these diseases are caused by faulty quality control rather than lack of ATP genitalia, we can start thinking about a therapeutic approach that improves the quality control," said Professor of Cardiovascular Medicine and the author. Zoltan Arany corresponds with Penn Medicine News.


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