Missing Genes and Autism

          Written in the article “Missing Genes May Be Tied to Development of Autism: Study,” a recent study conducted by researchers at the Mount Sinai School of Medicine in New York discovered gene deletions may be related to the development of autism.  More specifically, people with autism seem to have more gene deletions than people who don’t have autism.  Autism is a disorder marked by the impairment in social interaction and communication.  For those that don’t know, gene deletions are mutations that cause one and possibly more nucleotides to be removed from a DNA sequence.  Therefore, this can result in entire genes being deleted.  Leading researcher Joseph Buxbaum said that the gene deletions can possibly increase the risk of developing autism.  Also, he stated that the deletions may be responsible for the miswiring and changed activity of neurons in the brain.  In the study, Joseph Buxbaum and his associates analyzed the genes of 431 people with autism and 379 people without autism.  At the conclusion of the study, they discovered that there were 803 gene deletions in the group with autism and only 583 gene deletions in the group without autism.  The group without autism served as the control group of the study. 

From this study, the researchers also discovered those with autism probably have multiple gene deletions as well as the gene deletions being linked to autophagy.  Autophagy is a process that results in the destruction of worn out or damaged organelles in a cell.  This helps maintain homeostasis within the cell.  Buxbaum stated that during brain development, the brain produces too many synapses than it actually needs and so the extra synapses have to be removed.  However since the gene deletions can affect autophagy, the neurons end up having too many or too few synapses and this results in communication not working very well.  A final discovery from this study was that the gene deletions that occur within a person with autism are not likely from genetic inheritance.  Buxbaum said that some of the gene deletions seen in autism occur in the development of the egg or sperm.  Joseph Buxbaum and his associates continue to research with the hopes of further understanding this disorder.

I learned about autism in my abnormal psychology class last year.  Autism is a tragic disorder that is characterized by little social reciprocal interactions, very rare communicative eye contact, and generally seeming unaware of others.  The onset of autism is by the age of 3.  Also, people with autism have a narrow range of interests and activities and perform stereotypic movements such as hand flapping and rocking.  This recent article provides hope and a step in the right direction of understanding autism.  Hopefully one day, we will fully understand autism and possibly figure out how to prevent it or even cure it.