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New autism studies find new mutations, many genes behind the disorder

Autism clearly has a genetic component, since if one half of a set of identical twins suffers from the disorder, the other generally does as well. But there are also a high number of cases where it seems to appear spontaneously, with affected children being born in families with no history of problems.

In recent years, new molecular tools like DNA chips have allowed researchers to look at these sporadic cases in more detail. The results have suggested that spontaneous mutations may play a large role in causing the disease. But these studies were limited to looking at large changes, the loss or duplication of huge regions of the genome. Technology has marched on, however, and DNA sequencing has reached the point where we're now able to look for small individual changes in the genomes of families with an autistic member. These new studies reinforce the role of spontaneous mutations, but suggest that up to a thousand genes may be behind autistic behavior.

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Researchers study autism by making stem cells from autistic patients

Autism, like other complex neuronal disorders, is usually attributable to the interaction of multiple genetic and environmental factors that have been extremely difficult to tease apart. People with Timothy syndrome suffer from hypoglycemia, cardiac arrhythmia, and global developmental delay; more than 60 percent of them also have an autism spectrum disorder (ASD). Researchers in California and Japan recently generated stem cells from people with Timothy syndrome and began differentiating them into neurons in an attempt to gain further insights into autism. Their results are published in Nature Medicine.

Timothy syndrome is caused by a genetic mutation that changes one amino acid in a calcium channel expressed in the brain—calcium influx through these channels is essential for neuronal processes. It is not yet known how the mutation that causes Timothy syndrome disrupts normal cellular functioning or how it leads to psychiatric symptoms. Timothy syndrome thus provides a good system for examining how a specific gene contributes to brain development. 

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