A rapid genetic test will help identify a new cause of mitochondrial diseases. The discovery comes from a team of doctors and scientists from the Wellcome Center for Mitochondrial Research at Newcastle University. The researchers identified the genetic mutation in four children, all with problems in the NDUFA6 protein complex.
Mitochondrial diseases are genetic conditions that affect the mitochondria, the "batteries" of cells. Symptoms include muscle weakness, blindness, deafness, diabetes, heart problems. Unfortunately there is no resolution therapy and many patients die in infancy.
The researchers used a genetic test to identify a genetic variant that affects the NDUFA6 protein. This is essential for the proper functioning of the mitochondria. Understanding how the variants act on it is essential to diagnose and combat the disease. If there were already cases in the family, it could be the basis for pre-implantation genetic tests and prenatal diagnosis tests.
For the moment there is no cure for the effects of this genetic variant. On the other hand, Professor Rob Taylor already talks about the genetic test for diagnostic purposes. The discovery will make the current tests more precise, improving the understanding of the disease and giving at least an answer to different families. In addition, it will help to prevent the recurrence of the disease in families who have already suffered a bereavement.
The theme of prenatal and pre-implantation diagnostics is very dear to families with a sick child. In fact, these parents have a 25% chance of transmitting the same disease to the next child. A devastating awareness that a genetic test could fight.