New research was found which may lead to better diagnostics and the care and treatment for different types of diseases that occur during the early development of the brain, such as epilepsy. In the study, around 300 children coming with different types of forms of MCD gave in some brain tissue samples. These samples were collected when these children underwent epilepsy surgery to treat this disease. With each tissue sample, there was also a blood and saliva sample along with samples from the parents. Along with the samples given by the patients and their parents, there were also a small number of outside people that had no brain conditions that also donated their brain tissue for comparison. Comprehensive screening happened in three steps. The first step examined genes in the mTOR pathway. These genes regulate metabolism, cell growth, and show a huge amount of signaling in brains with epilepsy. The second step identified new genes through unbiased gene discovery to associated genes that may be tied with MCD. The third step consisted of testing a new sample independently to confirm the genes tested and identified in the first and second steps. The study came back with 69 mutated genes tied with MCD for the first time. Twelve of these mutated genes were mutated repeatedly which means that they were found in two different brain samples. The study confirmed that the mTOR pathway is a very important pathway to our body and the dysregulation of it can cause human diseases. However, the study concluded that there is much more to research, as it has never fully gone in depth. There may be more identifiable genes in the studies to come. To test mutation functions, the researchers put one of two forms of the MCD genes into the brains of mice, mutated or non-mutated. When mutated genes were introduced into the mice body, there were abnormalities in the brain very similar to the findings that were seen in humans with MCD which means that the mutated genes are very likely to contribute to the disease and they are vital to cortical development.
This study was very remarkable. There are lots of patients who deserve better care and it must be hard for patients with conditions like epilepsy or any neurological disorder to receive it. This study just proved that there needs to be more in depth studies of many disorders, but it also proved that there is an insight to the origin of these disorders. This is a start to the treatment of many conditions. This also brings hope to people who are diagnosed with these disorders. This research opened a new area of focus, and with more in depth studies, the findings will lead closer to better treatment and diagnostics, and hopefully a cure.