In novel study researchers suggest that cells taken from people suffering rare syndrome, which is associated with autism can help to understand and explain the genesis of the condition. A team of researchers from the Stanford University took the skin cells from people with Timothy syndrome and turned them into fully grown brain cells.
Timothy syndrome is vanishingly rare among people, it estimated to affect twenty people across the globe. People having Timothy syndrome often exhibit autistic behavior like problem in social communication and development. The syndrome occurred due to defect in single gene rather than a combination of small genetic errors.
It offers a constructive target for researchers looking to examine what goes wrong in the developing brain of a child with autism. The abnormal activity found in these cells could be partially corrected with the help of an experimental drug.
The Stanford University team used a technique that is developed recently to produce brain cells known as neurons, using sample only from skin of the Timothy syndrome patients. They found apparent dissimilarities between neurons those grown from Timothy syndrome patients, and those grown from healthy participants.
The healthy neurons are grown into different subtypes, prepared to function in different brain regions. On the contrary, the percentage of neurons growing into each subtype was dissimilar in the Timothy syndrome samples. The neurons were prepared to work in the upper part of the cerebral cortex.
There were fewer neurons those were equipped to work in brain region known as the corpus callosum, which has the role of helping the left and right hemispheres of the brain to communicate. Besides, the neurons were also making too much of body chemical associated with production of dopamine and norepinephrine, which are key to sensory processing and social behavior.
According to lead author Dr Ricardo Dolmetsch, the aberrations found coincided with other facts that autism was due in part to poor communication between different parts of the brain. They managed considerably to lessen the number of these faulty neurons by adding a drug as they developed. This meant it might be possible one day to treat this defect in a real patient.