An international team of researchers has found a new gene that is involved in the development of autism. This finding is the result of a large-scale genetic study. Apparently, it is more difficult to ‘read’ the gene in the brains of patients with autism. The results were published in the journal Nature on October 8, 2009. They will help people to understand how autism develops. Researchers from University Medical Center (UMC) Utrecht also took part in this study.
The researchers analyzed the hereditary traits of more than one thousand families that had two or more members with autism. They compared the genes of patients with autism with those of healthy family members. This led to new links being made with the gene (semaphorin 5A) which contributes to autism. This new genetic variant that has been linked with autism helps explain how the condition is caused in the first place but it is not the only factor contributing to the development of the disorder. Unfortunately, the above means it is not useful to screen people to see if they are carrying this particular genetic variant. The discovery does help shed more light on how autism occurs.
The researchers in this study did not focus solely on genetic research. They also performed post mortem comparisons of the activity of the semaphorin 5A gene in the brains of twenty autistic patients with the activity in the brains of ten people without autism. The gene was found to be substantially less active in the brains of autistic patients. This clearly points to the importance of the semaphorin 5A gene in this disorder.
The new autism gene is involved in the growth of neurons and their projections known as axons. Nerve cells or neurons communicate with each other by making connections. Dr. Maretha de Jonge of UMC Utrecht: “This finding links up well with the idea that autism is caused by failing connectivity. This basically means that the areas of the brain all have to be connected in order for the brain to function effectively. Faulty communication between areas of the brain could be part of the cause of autism.”
Hundreds of researchers from many countries contributed to this study. Dr Maretha de Jonge and psychiatrist Professor Herman van England took part in the study on behalf of UMC Utrecht. The Department of Psychiatry at UMC Utrecht has been part of an international consortium of autism researchers since 1996.
Autism is a severe developmental disorder with a hereditary basis. People with the condition have problems with social interaction and communication. It is considered to be a psychiatric disorder that is strongly determined by genetic factors.