Saturday, October 15, 2016

Ben-Gurion University of the Negev in Israel is a step closer to having a better understanding of the genetics of autism , which according to the U.S. Centers for Disease Control and Prevention affects 1 in 50 children. This number has gone up tremendously since the 1980s in which it was 1 in 5,000 children affected. 

The researchers from the university examined 650 different gene sequences that are associated withautism and came across characteristics that separate them from other brain specific genes and genes of other diseases. Having these specific traits allows scientists to look to them for the "signature" of autism. One specific finding involved seeing that these autism associated genes appeared to be much larger genomic length as opposed to other brain related diseases such as Alzheimer's and Schizophrenia. 

When the research team studied families that had a child who had been diagnosed with autism they found a distinct genomic signature that is shaped by an evolutionary process called negative selection. This purifies and removes disruptive mutations from genes and prohibits them from replicating over generations. With this they also searched for positive selection in these genes, which could help explain the prevalence of autism in todays human population. However, they found no evidence to support positive selection. This shows that autism susceptible mutations are in the human genome but only are expressed as a autism disorder when combined with genetic, environmental or non-genetic factors. These findings by this research team could certainly help to get earlier detection of autism and will promote further study of these genes in the future.

No comments:

Post a Comment