Genes are often at the root of neurodevelopmental disorders such as autism, epilepsy and intellectual disabilities. With the help of genetic models from mouse models and stem cells, 15 special genes and their mechanisms in the brain are being examined in detail in order to be able to develop new therapies. Research into the BCKDK gene is already a success story. These and other new scientific findings in human genetics will be discussed from June 11 to 16 at the Congress of European Human Genetics (ESHG) in the Austria Center Vienna.
Delayed in walking or speaking
“Neurological developmental disorders such as autism, epilepsy and mental disabilities are usually only diagnosed medically when children are unable to reach certain milestones in their cognitive development, such as walking or speaking, or are only able to do so with a very long delay,” says Gaia Novarino, Vice President for Science Education at the Institute of Science and Technology Technology Austria (ISTA) and speaker at the European Congress of Human Genetics (ESHG). The cause is often in the genes.
“This is exactly where we start our research to find out which genes trigger neurodevelopmental disorders,” says the researcher. Only if you know what exactly happens in the brain and you understand the mechanisms that take place there can individual therapies be developed that also significantly improve the children’s cognitive functions.
According to Novarino, a major breakthrough in research into neurodevelopmental disorders came with the discovery of the BCKDK gene, which is found on the 16th chromosome. “This gene can cause an amino acid metabolism disorder that subsequently leads to neurodevelopmental disorders,” explains the scientist.
Difficult cause research
People with the BCKDK gene abnormality break down the special amino acids more. In the case of BCKDK, a simple and effective therapy could be found with an increased intake of these special amino acids through nutrition or infusion. “These significantly improve the cognitive functions of children affected by this form of autism and epilepsy,” says Novarino.
However, research into the causes and development of therapies for neurological development disorders are still difficult in many cases. Because the backgrounds as well as the clinical pictures can be very different. “We are therefore forming smaller groups of very similar cases and are currently investigating 15 different genes in my research group, which are also representative of different gene types.
Another focus of research is not only to look at the gene itself, but to learn to understand what it does in the molecules, the cell, the neurological networks and the brain. For this purpose, genetic models from mice and stem cells are used, from which neurons and small “mini-brains” are created that show how the human brain works.
Source: Nachrichten
