A team of scientist at a McGill University have discovered a molecular price that plays an important role in the development of autism. The research was led by Dr. Carl Ernst who is a researcher at the Douglas Hospital Research Center.
Autism is mental disorder disease that causes the brain to not develop completely and properly. The people affected from this disease face problems in having conversations and interacting socially. Research in this field is being done for a very long time. researchers have been trying to find about the causes of this disease, what functions cause the disease and what processes take place in the brain that cause the disorder.
Mice models have also been used to test the processes. However, mice models may give an idea about the processes but for exact details research still needs to be done on the human tissues. In this study human tissues and human brain cells have been used to carry out the research. The cells have been used through the modern technology of genetic engineering and the research has been carried out on the dish.
For the research skin cells from patients were taken as samples, these cells were further reprogrammed to become brain cells through genetic engineering. The researchers tracked the development of the brain cell through the patient’s own mutation and how it developed improperly. The team of researchers consisted of Dr. Ernst, who graduated from Scott Bell, and Thomas M. Durcan and Edward A. Fon, his fellow colleagues at the Montreal Neurological Institute and Hospital.
The major focus of the team was on the gene called GRIN2B. This gene is a well-known cause of autism. It causes autism when mutated. Almost all the genes in the human body has two copies. In the case of GRIN2B only one mutation is enough to cause brain disorder and autism.
Carl Ernst, a Canada Research Chair in Psychiatry Genetics recipient and a McGill associate professor in the Department of Psychiatry stated that the protein which is made from GRIN2B is mostly studied in the context of rodents, i-e maturing or mature neurons. It was observed that the human body itself produced the stem cells and the immature cells further produce this protein. This gene plays a very important role in the early developments of the disease.
It was stated that the mice models were not able exhibit this particular genetic syndrome hence the research had to be carried out on the human tissues. For this purpose, the electrically active brain cells were used, they were observed on a dish without any blood supply.
GRIN2B acts an important receptor-namely NMDA- in the human brain. It helps the mature neurons to communicate with each other. The studies have made it clear that GRIN2B forms a major part of the stem-cell stage. Using the high technology genetic engineering the researchers were even able to reverse the effects of mutation on the dish and return the cell to its healthy state.
Dr. Ernst, who is a senior author of this research, explained that many different genes do different types of mutations and give rise to very rare diseases that fall under the autism spectrum disorders. These rare diseases further join together and form a whole group of symptoms of the disease. He further added that this issue needs to be analyzed from its roots, from the mutation stage rather than just working on the clinical classifications.
More studies are being carried out to test if any other genes cause autism at the later stages and what kind of mutations do they go through.
Source : McGill University