Autism Risk Higher in People with Gene Variant
Scientists have found a variation in a gene that may raise the risk of developing autism, especially when the variant is inherited from mothers rather than fathers.
Balintfy: Scientists have found a variation in a gene that may raise the risk of developing autism, especially when the variant is inherited from mothers rather than fathers. Researchers at the National Institute of Mental health say they have always known genes are involved with autism.
Lehner: We just never knew which ones.
Balintfy: Dr. Thomas Lehner is Chief of the Genomics Research Branch at NIMH.
Lehner: Now for the first time, we have several studies that find the same findings. That's very exciting for us.
Balintfy: Dr. Lehner explains what these findings mean.
Lehner: The implications would be once we know a gene, hopefully we'll find others. Because it's important to point out that there while we have genes, there are probably many genes involved in the etiology of autism and autism itself is a very heterogeneous disorder. Autism is a conglomerate of many subtypes and many genes are probably affecting these subtypes. Now once we know a gene or genes, then we can look at pathways to understand the whole, what we call molecular etiology of a particular disorder. Once we understand all the pathways that lead to a genotype, the hope is, in the future, then we will be able design an intervention. But it's important to point out that this is still all basic research the future is so far off. But for the first time we actually have a chance of understanding what are the molecular mechanisms that lead to the genotype that we call autism.
Balintfy: Autism is a brain disorder that impairs basic behaviors needed for social interactions, such as eye contact and speech. The symptoms sometimes cause profound disability, and they persist throughout life. Treatments may relieve some symptoms, but no treatment is fully effective in treating the core social deficits. Dr. Lehner stresses that these latest findings are at a very basic level.
Lehner: I think what I really want to emphasize is that this is very, very exciting science, but it is basic science. So we cannot expect that there will be treatments coming out this anytime soon. But what is so important about this is that it opens up a toolbox for further research. Once we understand what is the molecular physiology then we can hopefully develop interventions. But at this point, it's very, very exciting basic research.
Balintfy: For more information about autism, visit the NIMH website at www.nimh.nih.gov. This is Joe Balintfy at the National Institutes of Health Bethesda, Maryland.
About This Audio Report
Reporter: Joe Balintfy
Sound Bite: Dr. Thomas Lehner, Chief of the
Genomics Research Branch, NIMH
Topic: Autism Risk