Brain tissue reveals more genetic clues to autism

ASF Blog

A study published today in Neuron  examines brain tissue of people diagnosed with autism to better understand the symptoms of autism, and when mutations in the DNA occurred. In other words, did the genetic mutation originate from the parents DNA, or did it happen sometime after the egg and the sperm formed an embryo?   Knowing when they occurred helps in understanding how autism can be passed on, how standard blood tests for autism should be used, and how often genetic mutations occur in brain tissue.

To illustrate the importance of different mutations, here is a primer.   Most human genetic diseases are the result of inherited DNA mutations, in other words, those that are present in one of the parents. There is one big exception to this: cancer. But other genetic diseases, like sickle cell disease and cystic fibrosis, result from inherited DNA. Maybe the parent doesn’t have the same exact mutation…

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