US research sheds light on rare form of autism
The Autism News | English
PALO ALTO (California) – Neuroscientists studying a rare syndrome linked to autism have offered new insights into the condition and its origins, the Stanford University School of Medicine said in a release on Sunday.
The researchers studied brain cells developed from skin samples of patients with Timothy Syndrome, a rare genetic condition.
“We developed a way of taking skin cells from humans with Timothy Syndrome and converting them into stem cells, then converting those stem cells into neurons,” said Dr Ricardo Dolmetsch, an associate professor of neurobiology at Stanford University.
What the researchers found were obvious differences between neurons grown from Timothy Syndrome sufferers – who frequently display autistic behaviour such as problems with social development and communication – and those of control subjects.
Brain cells grown from those with the syndrome displayed an overproduction of a chemical linked to the manufacture of dopamine and norepinephrine, the brain’s “chemical messengers”.
In addition, while neurons grown from healthy control subjects developed into different subtypes that would be ready to work in different regions on the brain, those grown from Timothy Syndrome patients were more equipped to work in the upper part of the cerebral cortex.
This means that there were fewer neurons equipped to work in the corpus callosum, the part of the brain that connects and regulates the two halves of the brain.
These differences echoed what had already been observed in mice specially bred with the same genetic syndrome.
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Comments
Absolutely fascinating. What about other rare forms of Autism such as Rhetts or Childhood Disentigrative Disorder?
