Sunday, February 20, 2011

What's missing may be key to understanding genetics of autism

This article describes a study in which missing or duplicated strands of DNA were found to be responsible for some cases of autism.  The researchers analyzed the genetic makeup of  individuals with and without autism and found that those genes which are missing are involved with the development and function of the brain.  Autism is a developmental disorder that affects social interaction and language development and is believed to be caused by genetic factors.  The study showed that people with autism tend to have deletions that remove parts or all of genes, while healthy people carry deletions on stretches of DNA that don’t contain genes.  One X-linked gene in particular,   DDX53-PTCHD1, was found to be strongly liked to autism.

With the increasing number of autism cases, these results will hopefully help narrow down some of the likely causes to autism.  The fact that a gene strongly linked with autism was located on the X chromosome probably explains why it is mostly boys who are diagnosed.

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