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Researchers use cell transformation to understand autism

A team of Stanford researchers was recently able to transform skin cells from individuals with a rare autism-linked condition known as Timothy syndrome into full-fledged brain cells, presenting another look at potential genetic precursors of autism.


Timothy syndrome is exceedingly rare – an estimated 20 people around the world have it – but because it is controlled by a single gene defect, it may aid scientists in identifying the developmental abnormalities in children with autism. Individuals with Timothy syndrome display similar developmental and communication problems to those with autism.


The Stanford team, led by postdoctoral research fellow in neurobiology Sergiu Pasca and associate professor of neurobiology Ricardo Dolmetsch, published its findings online in Nature Medicine.


Compared with skin cell samples taken from healthy patients, those taken from Timothy syndrome patients grew into a different proportion of brain cell subtypes, lacking cells active in the corpus callosum, a part of the brain that facilitates communication between the two hemispheres. The cells also produced too much of a chemical that makes the neurotransmitters dopamine and norepinephrine, which aid in sensory processing and social behavior.


The findings substantiate those of other studies that have claimed that autism stems from poor communication between parts of the brain. However, the National Autism Society and researchers themselves cautioned against generalizing the findings to all forms of autism, as Timothy syndrome only covers a subset of patients.

- Ellora Israni