A team of scientists from the University of Cambridge identified a fundamental gene in fruit flies. This gene encodes a protein that can be used to treat some mitochondrial diseases.

The discovery could be a turning point in the treatment of these genetic diseases, many of which have no cure. Each cell contains hundreds of copies of mitochondrial DNA, some of which may contain anomalies. When the mutated copies exceed 80%, the genetic diseases in question occur. It is estimated that this happens in about one person in 5,000 in the UK alone, sometimes with fatal consequences. The fight between healthy and mutated copies of mitochondrial DNA plays a fundamental role in development, although it is not entirely clear.

The researchers then used fruit flies to study possible anomalies in the mitochondria and how they change over time. The researchers created flies with three parents, with the mitochondrial DNA of a second mother. Each midge was the bearer of two mitochondrial genomes, one healthy and the other mutated, which balanced each other. However, a change in nuclear DNA was enough to break the balance. Thanks to these observations, the scientists measured the influence of each gene in this process. In the end, they identified one in particular.

The gene that codes for mitochondrial polymerase appears to be the key to the process. By reducing polymerase levels, the percentage of healthy copies of mitochondrial DNA rises from 20% to 75% in one generation. This is enough to reduce the symptoms of diseases and give patients a healthier life, at least those with wings. The next step will be to test the discovery on mice and humans.

Source: cam.ac.uk