Posted by 
Autism spectrum disorders are a set of hundreds of very rare diseases, caused by mutations in many different genes, but which cluster into a particular constellation of symptoms.
McGill team of scientists led by Dr. Carl Ernst, researcher at the Douglas Hospital Research Centre, revealed a molecular mechanism that may play a role in the development of autism.
By taking skin cells from patients and reprogramming those cells to become brain cells through genetic engineering, Dr. Ernst, graduate student Scott Bell, and Edward A. Fon and Thomas M. Durcan, colleagues at the Montreal Neurological Institute and Hospital, tracked how a brain cell with the patient’s own mutation develops improperly.
The team focused on a gene- GRIN2B, a gene known to cause autism when mutated. Almost all genes in humans have two copies. A mutation in one copy of GRIN2B is sufficient to cause moderate intellectual disability and autism. The protein, made from this gene, is usually studied in the context of maturing or mature neurons, mainly in rodents.
Human neural stem cells derived from patients and considered as immature cells produce this protein. It also plays a key role at a much earlier developmental stage than previously thought. Manufacturing these electrically active brain cells allows a real insight into the human nervous system in a dish, even without a blood supply or supporting cell structures.
GRIN2B forms a part of a major receptor-NMDA in the human brain. The study data showed GRIN2B clearly has a function at the neural stem-cell stage. Using genetic engineering technology, researchers were able to repair the patient’s mutation in a dish and reverse the observed effects back to what healthy cells looked like.
haleplushearty.org