Researchers at UC San Francisco have developed a new genetic model of autism, using neurons created in the lab from patients’ own skin cells. Their experiments suggest that abnormalities in the electrical firing of neurons may lead to behavioral and developmental symptoms in autism, while differences in neuron size and shape result in abnormalities in brain size that often accompany the disorder.
The researchers obtained skin cells from patients who carried one or the other of the mutations, which they first turned into stem cells and then into brain cells. Neurons with the deletion had significantly larger cell bodies with more and longer branches coming off the cell, while neurons with the duplication had smaller cell bodies and shorter branches. The scientists think that these differences in cell size are behind the differences in overall brain size seen in patients, with deletions corresponding to larger neurons and therefore larger brains, and duplications resulting in smaller neurons and smaller brains.
“Our results suggest that the anatomical symptoms seen in autism may have different origins than the behavioral symptoms, even though they’re caused by the same mutation,” said Aditi Deshpande, PhD, a postdoctoral researcher in the Weiss laboratory and first author on the paper.
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