New Research may be Useful to Advance our Knowledge of Autism

November 12, 2012

New Research may be Useful to Advance our Knowledge of Autism

Autism, in its most general form affects countless people on the planet, however there is one form which is extremely rare. It’s called ‘Timothy syndrome’ and the number of sufferers worldwide is estimated to be around twenty or so. What makes this form of autism so interesting is that it’s caused by a single gene imperfection, not a number of genes all having a small flaw which contributes to the overall effect. This makes it an easier process for scientists to investigate. By having one focal point for the research, scientists can focus on one area of a developing brain. Researchers from Stanford University in the United States, hoping to increase their knowledge of autism have managed to turn skin cells from Timothy syndrome sufferers into fully developed brain cells and it is suggested that these cells may be repaired or partially repaired by use of an experimental drug according to the journal Nature Medicine. In their hope of gaining an insight of autism researchers believe that this work may further their knowledge of autism and perhaps explain how it originated. However people should not think that this is a major breakthrough just yet. Researchers from the UK urge caution and explain that we don’t know how many autistic people can be helped with the drug. Timothy syndrome displays itself with behaviour which is common to autistic people with issues with communication and social and behavioural problems.

Laboratory Research Encouraging

The work carried out by the researchers from Stanford University employed a new technique which allowed them to make neurons, which are types of brain cells, from the person’s skin. By having these cells work could continue in laboratory conditions. The researchers found that neurons from people with Timothy syndrome developed in a different manner than those from the control group. In normal growth and development neurons grow into different subtypes to allow them to contribute to diverse areas of the brain. However when the cells came from a person with Timothy syndrome it was found that there was an abundance of neurons geared up to work in the upper regions of the cerebral cortex, but the lower areas had fewer neurons. This deficit means that there are less neurons available in the corpus callosum region of the brain. This area is responsible for ensuring adequate communication between the left and right sides of the brain. Because all of this work was carried out in laboratory conditions it meant that potential treatments could also be experimented with.

Earlier research with mice specially modified to have Timothy syndrome had provided findings identical to the human research. Another finding identified that the neurons were producing certain chemicals to excess. These chemicals are involved with social behaviour and sensory processing and are called norepinephrine and dopamine.

The study was led by Dr Ricardo Dolmetsch, who believes that other evidence supports his view that the anomalies found contribute to flawed communication between different regions of the brain.

During the course of the research the team administered a drug to the malfunctioning neurons and the result was that it considerably lessened the amount that continued to malfunction. This led the researchers to believe that at some time in the future this may be used to rectify defects in patient’s brains. However the drug used in the research is unsuitable for children because of possible side effects that may arise.

The National Autistic Society (NAS) welcomed the reported findings but urged caution and pointed out that the work did not automatically add to our knowledge of every form of autism. They further point out that this research requires more work to fully substantiate the findings. A researcher from the NAS said: “Timothy syndrome is only one form of autism and so these findings only give a very limited picture of what might cause the condition.

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