Author: Honor Whiteman
Published: December 30, 2014
Link: Scientists uncover molecular map of autism-related genes - Medical News Today
Summary: 1 in 68 children are estimated to be affected with autism in the United States. Studies have shown at least a significant partial link between genetics and autism risks. But there are many different potential mutations, which makes the disease hard to study. Researchers need to find out how much shared molecular pathways are perturbed by the diverse set of mutations linked to autism A team at the the Stanford Center for Genomics and Personalized Medicine at Stanford School of Medicine in California created an "interactome," displaying all molecular interactions in the brain cells they examined. They identified a specific module, or unit of activity, with 119 proteins with a "very strong enrichment for autism genes." That told them the protein interaction module is involved in autism. Then, using the methods of DNA sequencing, RNA sequencing, antibody staining and functional genomic evidence, the team also found that a brain region called the corpus callosum and certain brain cells called oligodendrocytes influence autism. The molecule they found had two distinct components, one which was a compound that was expressed throughout different regions of the brain, and the other that was expressed specifically in the corpus callosum. Based on this, the researchers think interference in parts of the corpus callosum disrupts the signaling between the two halves of the brain, which likely causes the features characteristic of autism. The lead study author Michael Snyder had this to say about the team's findings: "Our study highlights the importance of building integrative models to study complex human diseases. The use of biological networks allowed us to superimpose clinical mutations for autism onto specific disease-related pathways. This helps finding the needles in the haystack worthy of further investigation and provides a framework to uncover functional models for other diseases." It seems these findings will help make research of genetic diseases easier in general.
Connection: This article is relevant to our molecular genetics unit. We discussed the way in which genes impact the body: through the creation of proteins. This research identifies a model of specific proteins linked to specific genes that, together, influence the risk of autism as one complex, polygenic trait. It shows how, as we discussed, it is possible for more than one gene to influence a trait or connected set of traits, and how groups of molecules work together to achieve a particular outcome. The methods of viewing DNA and RNA relate to and expand upon the methods we used to view specific genes: PCR and gel electrophoresis. Antibody staining is reminiscent of the staining and destaining processes we performed with the gels. Since they have been identifying specific genes, this also connects to our heredity unit, as the genes here would naturally be hereditary.
What negative effects could occur from the removal of the autism-inducing genes, if any?
ReplyDeleteWould it even be an option to remove these genes? Would that cause more issues than it would solve?
ReplyDeleteTo answer both of your questions (the reply function isn't working right now): Removal does not seem likely, because it would be complicated, risky (for eggs), and time-consuming with the time needed to develop restriction enzymes to cut out the unwanted genes. I doubt, however, that it would affect the child produced from such altered gametes, since it's only removing negative genes. It would make more sense to look for specific sperm from a potential after and select from a mother's pre-frozen eggs without the genes. If necessary, an egg donor without the genes for autism could replace the mother.
ReplyDeleteGene therapy, on the other hand, which involves trying to alter genes in individuals who have already been born, has been shown to be dangerous, killing many unfortunate recipients. It is unknown what effect it would have on someone who already has autism, which impacts the sensitive brain, rather than a regular organ.
Gene Therapy: www.actionbioscience.org/biotechnology/kolehmainen.html