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Gaucher disease (GD) is an inherited and irreversible disease that is a metabolic disorder due to the absence of glucocerebrosidase and which leads to inflammation of the liver, spleen, bone fragility, Anemia and fatigue.
The team of scientists discovered that the application of a viral vector – a modified virus used to introduce genetic material into the nucleus of a cell – into the brain of the fetus a mouse with GD allowed him to survive longer and show less brain degeneration, thanks to the change of one of the deficient enzymes with the disease.
The head of research, Simon Waddington, of University College London, explained that "the mice that received the injection in utero were living up to, at least, 18 weeks after birth ", a number much higher than" 15 days "that lasted those rodents that were not treated.
"They had no symptoms of neurodegeneration, they were fertile and completely mobile," he said of animals that have undergone gene therapy. Neuronal expression of glucocerebrosidase.
Some symptoms of DG can be treated after birth with enzymatic substitution therapies, but neurodegeneration is refractory and, in most cases, fatal, so therapies should be started as soon as possible. as possible.
Scientists have also developed a method to guide the transfer of vectors into the larger brains in the uterus of nonhuman primates by ultrasound, since macaques and people have very similar neurological systems.
The next steps in the investigation require to determine how the vector evolves throughout the animal's life, particularly in the central nervous system, and to increase the degree of accuracy from the diagnosis to start gene therapy in the uterus.
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