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Autism genes complex
Yet again, genetic research is teaching us so much more about the way things work in the human body and taking us down unexpected paths.
For the past couple of decades we have suspected genetic involvement in the cause of autism spectrum disorders (ASD). Over the past couple of years, research is confirming this but its genetic complexity has also surprised scientists.
In the 1990s it was thought there may be as many as about 15 different genes involved in the development of ASD and its associated symptoms. Newer research is showing us there are likely hundreds of unique gene mutations involved in these disorders that may arise spontaneously and occur in a different combination in almost every person with ASD.
Several studies published in the journal Neuron examined the genetics of autism in more than 1,000 families with only one affected child. Analysis suggests the genes may be part of a large network involved in controlling the development of the synapses between nerve cells, which allow them to communicate.
One team of researchers discovered a particular cluster of pathways involved in the development of synapses in young brains was being interrupted as a result of some gene mutations. In these cases, there was an overabundance of connections between nerve cells in autistic children. These same genetic mutations causing too many connections in autistic children seemed to produce an opposite effect among children with Williams syndrome – a rare developmental disorder in which people tend to be highly social, sensitive and empathetic.
Researchers have also long been interested in the reasons why four times as many boys are affected by ASD as girls. After analyzing data from these studies, it did appear the mutations were much likely to cause autism in boys than girls. Girls seem able to better resist the development of symptoms and need larger gene disruptions to actually cause the disorder – more research is needed but scientists involved in these studies believe girls might have some unique protection against genetic anomalies.
Although many clues have been uncovered in recent years, the research has also revealed just how complex ASD truly is. With no universal gene responsible for the disorder and literally hundreds of different variations, it will be a long time before we get concrete answers about many aspects of these disorders. Even the most common mutations were seen in only about one percent of affected children – and experts say we still cannot understand most cases of ASD.
There is still much to learn about the rare mutations involved with autism and why the condition seems to be on the rise in our population. I look forward to seeing more data as it comes forward.
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