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Academic Journal
Article Date: 25 Nov 2011 – 2:00 PST
In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, a rare disorder with autism-like symptoms, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses, the connectors that allow brain cells or neurons to communicate with one another. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis, another rare disease that leads to autism and intellectual disability, is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.
Mark Bear, the Picower Professor of Neuroscience and a member of the Picower Institute for Learning and Memory at Massachusetts Institute of Technology (MIT), and colleagues write about their findings in the 23 November online issue of Nature.
It seems puzzling that underproduction of synaptic proteins and overproduction of those same proteins lead to the same disorder, but it does fit into the idea that autism is caused by a wide range of problems to do with brain synapses, as Bear tells the press in a statement:
“The general concept is that appropriate brain function occurs within a very narrow physiological range that is tightly maintained.”
“If you exceed that range in either direction, you have an impairment that can manifest as this constellation of symptoms, which very frequently go together – autism spectrum disorder, intellectual disability and epilepsy,” he adds.
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http://www.medicalnewstoday.com/articles/238249.php
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