According to a story from UPI, gene editing technology could be a potential treatment for mitochondrial diseases, a rare, genetic illness that is usually fatal. In a proof-of-concept experiment, researchers from University of Cambridge in London were able to repair the mitochondrial DNA in mitochondrial disease mouse model. The results of this study were recently released in the journal called Nature Medicine.
About Mitochondrial Diseases
Mitochondrial diseases are a group of genetic disorders that causes the mitochondria not to function properly. The mitochondria are an essential organelle that is found in most types of cells in the body, with red blood cells being the only exception. They are responsible for generating energy for the cell. Mitochondrial diseases are usually caused by mutations of the mitochondrial DNA or the nuclear DNA. Symptoms tend to be the worst when the issue affects cells that use a lot of energy, such as the muscles or parts of the brain. These symptoms affect many aspects of bodily function and include poor growth, poor muscle coordination, dementia, neurological issues, muscle weakness, breathing disorders, vision problems, digestive disorders, hearing problems, disease of the kidney, liver, and heart, and learning disabilities. Treatment options are limited in number and in their effectiveness. To learn more about mitochondrial diseases, click here.
A New Approach To Gene Therapy
The gene editing approach used in the study also offers some advantages over other gene therapy approaches that are in development, such as mitochondrial replacement therapy. In this approach, an egg or embryo with the mutation that causes the disease has its mitochondria replaced with health mitochondria from a donor. While this approach has some utility and can also help prevent mitochondrial diseases from being transmitted, many mitochondrial diseases are not necessarily heritable from a parent.
Clearing Out Mutated DNA
The gene editing method of action, meanwhile, takes a different approach. For disease to occur, 60 percent of mitochondrial DNA in a cell must be mutated or damaged. So reducing this percentage to less that this amount could eliminate symptoms. In the study, the therapy was introduced to the mouse’s bloodstream, where it was able to selectively target the mutated DNA and eliminate it, allowing it to be replaced by healthy DNA. Function of the mouse’s heart improved.
To learn more about this study, click here.