New genetic link to autism
An international group of scientists have announced that their findings show activity of a specific gene is reduced in people with autism. This is a neural gene that has not previously been linked to autism. The research also sheds light on two additional regions which may have rare genetic differences that could affect the risk of autism.
The study, published in Science Daily and US New & World Report today, identified a single letter change on chromosome 5 near a gene believed to direct the growth of neurons and how nerve cells transmit impulses through the body and to the brain and the speed at which they do so.
They also found a possible link between autism and chromosomes 6 and 20, though the nature of the link isn’t specified.
The study analyzed the DNA from people with autism and their families as well as unrelated individuals without autism.
The senior co-author of the study, Dr. Mark Daly a senior associate member of the Broad Institute of Harvard and MIT and an associate professor for the Center for Human Genetic Research at Massachusetts General Hospital, believes the findings of his team are an important step in finding out more about autistic disorders.
“The genomic regions we’ve identified help shed additional light on the biology of autism and point to areas that should be prioritized for further study.”
Previously, Daly headed a research team in 2008 that found duplications and missing pieces of DNA on a region of chromosome 16 in individuals with autism. At the time, though, Daly was quoted as saying it wouldn’t come down to one chromosome that causes all cases of autism.
“We’re going to find 10 or 100 genes that interact to cause it,” he told Alvin Powell of the Harvard News Office at the time. “This is very likely a very strong causal factor in one to two percent of autism. That makes it a small piece of a larger puzzle. The hope going forward is that this may help us find other pieces.”
The region of chromosome 16 that was found to have unusual traits in those with autism contains 25 genes, some of which have to do with the brain, though their relation to the brain and the functions of some of the other genes within chromosome 16 have not been identified.
Most autism cases are believed to have a genetic foundation, though why these gene differences related to autism appears in some family members and not others remain unknown.
Here in Phoenix, the Translational Genomics Research Institute is working to map genetic mutations through generations within families in order to be able to identify the genetic differences that lead to a high prevalence of autism in some families. Their web site states that the company hopes to use their findings to develop a diagnosis through blood tests that will not only identify autism in an individual at birth, but be able to specify which form of autism will appear during development.
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