Scientists have previously posited that autism’s cause is at the synapse. Mutations in the genes for neuroligins—which ensure that signal transitions between nerve cells function—-have been suggested as a cause of autism.  Neuroscientists at Children’s Hospital Boston have identified what is being called a “master switch” that organizes the functioning of inhibitory synapses. Synapses are the connections between brain cells and enable communication among neurons; they’re essentially for virtually all brain functions, such as memory, sensory perception, motor coordination, learning.
The “master switch” is Npas4, which is a transcription factor, a “switch” that activates or represses other genes; it regulates …read more

By analyzing the genes of 88 families from the Middle East, Turkey and Pakistan in which cousins married and had autistic children, researchers have found clues to the neural impairments associated with autism. While researchers found multiple genetic causes for autism in different individuals, a few inherited deletions that have been linked to autism stood out. That is, while there may be different (and many different) genetic mutations that lead to autism in different individuals, some common mechanisms in the brain are affected.
The study, Identifying autism loci and genes by tracing recent shared ancestry, was led by Christopher Walsh, M.D., …read more

About one-third of those with Fragile X also have autism. My son was tested for Fragile X around the time that he was being evaluated for autism, and Charlie does not have Fragile X (go here to read about a new gene that was found for Fragile X earlier this year). A recent study in Developmental Cell has found that those with Fragile X lack a protein that is crucial for the signaling between the nucleus of neurons and the synapse; this protein is essential for brain development, memory, and learning. More in today’s Science Daily and more about the …read more

MIT researchers have found that the lack of a brain protein, Shank 1, in mice causes them to learn some tasks faster but, when tested weeks later, they were not able to retain that knowledge. Shank 1 is a key protein in building synapses, and mutations in the closely related protein, Shank 3, have been linked to autism. The mice were found to be able to learn a spatial task quickly but (as compared to normal mice) were later unable to remember how to do it. The study is published in the Journal of Neuroscience; here are more details form …read more