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.
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