MAASTRICHT. Few people will have heard about the Kleefstra syndrome. It is a combination of a mental disability and autism. The illness was discovered in Nijmegen, at the Radboud University a few of years ago. The Maastricht molecular life sciences alumna Marise van de Molengraft was allowed to take part in the research project during her final traineeship, in order to learn more about this syndrome.
One of the problems with the Kleefstra syndrome is that it is difficult to diagnose. “The symptoms are similar to other disorders that cause mental disabilities. There are only a few hundred people in the whole world who are known to have this disorder, but that number could be much greater, except there hasn’t been a diagnosis yet.” This can only be determined by using a brain scan. Patients suffering from the Kleefstra syndrome have an area in their brain where signals (everything we hear, see, smell, feel, and taste) are processed, which is insufficiently developed. This means that information that enters the brain is not processed properly, resulting in learning and memory problems.
To see exactly how this works, Van de Molengraft studied mice brains. “We know that patients with this disorder are missing a gene. This affects the development of other genes. The mice brains that I studied were cut into slices and coloured with liquid. In doing so, you can see cells individually.”
Van de Molengraft looked at how many protrusions each cell had. “The more protrusions, the more connections a cell can make. Those connections are important for the development of the brain. The faulty cells had fewer protrusions than the normal cells.” Not only that, but the protrusions were also thinner than those of the healthy cells. “The thicker the protrusions, the stronger the connections and the stronger the signals sent to your brain.”
Those faulty cells have now been mapped out – using imaging technology – but a lot more has to be done before we understand the illness. “Studying cell cultures, DNA testing, animal experiments. The more you discover, the more questions you have.” Van de Molengraft would at any rate like to continue doing research. “I am now doing the research master of Cognitive Neuroscience in Nijmegen. I would like to do something with the brain again for my master’s thesis, because it is so fascinating.”