Autism
spectrum disorders (ASD) affect about one percent of the world's
population and are characterized by a range of difficulties in social
interaction and communication. A team of researchers led by Gaia Novarino,
Professor at IST Austria, has identified a new genetic cause of ASD. There
are many different genetic mutations causing autism, and
they are all very rare. A new
autism-linked gene was not only revealed, but it also identified the mechanism
by which its mutation causes autism. Mutations in other genes share the same
autism-causing method. They were able to identify mutations in a gene called
SLC7A5 in several patients born to consanguineous marriages and diagnosed with
syndromic autism. SLC7A5 transports a certain type of amino acids into the
brain. Researchers studied mice in which SLC7A5 is removed at the barrier
between the blood and the brain, to understand how mutations of SLC7A5 lead to
autism. They removed the gene from the mice and discovered that it caused an
interference with protein synthesis in neurons. The mice showed reduced social
interaction and behavioral changes. The researchers reintroduced the missing
SLC7A5 gene into the mice and after three weeks, improvements in behavior were seen.
Researchers found a potential treatment for a form of ASD only in mice. It is
going to take many more years of research until this process can be performed
on human patients. Before the study, autism spectrum disorders were always
thought to be irreversible conditions. The way they treated symptoms in the
mice cannot be directly used in humans. It showed that some of the neurological
complications presented by mice missing SLC7A5 can be rescued. So, it is
possible that patients may eventually be treated as well.
The fact that researchers found a potential
treatment for a form of ASD only in mice is still a great thing. That shows we are one step closer in finding a treatment for humans. Hopefully in a
few years, there will be results in potential treatments for autism spectrum
disorders for humans.
This is a very interesting article - primarily because autism seems to be very well known, but no one really understands what causes it. I know it is only being tested on mice so far; however, like you said, it is one step closer to finding a treatment for humans. I do also wonder just how closely the behavior of the mice resembles a humans,' at least in terms of speech.
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