An international team of researchers has identified a rare genetic mutation, the cause of an inherited metabolic disease. The mutation has been found in the DNA of three children with degenerative diseases, without diagnosis. Although the gene is intact, it is repeated so many times that it is in fact unusable.
A phenomenon that is impossible to detect, except with whole-genome sequencing. At first, the researchers led by Dr. van Karnebeek failed to identify the genetic variant. The BC Children's team then intervened with a whole new approach. Scientists used manual analysis and combined bioinformatics tools. In this way they were able to identify the repetitions that prevent the gene from functioning. A discovery also possible thanks to a multidisciplinary approach.
The identified gene encodes the enzyme that regulates the glutamate-glutamine cycle. It is not yet clear how the anomaly causes the disease. It is likely to be the fault of excess glutamine or glutamate deficiency. The discovery finally provided a diagnosis to the three children and their families. Above all, it opens the door to the development of possible treatments even for more common diseases. Further research will be needed to develop gene or drug therapy.
To combat the effects of metabolic disease, dietary changes and dietary supplements may also be needed. All in order to slow down or even stop the damage caused by the disease.