Unfortunately, a few articles are heralding the CDH10 gene as the cure-all for autism. Many of the articles did not include the fact that the researchers had found no solid evidence to conclude that CDH10 is actually affected by the SNPs that were found in the 5p41.1 region. The emphasis was often placed on a cure, rather than on the true meaning of the discovery: that early detection might be easier with this new knowledge. This is misleading since the article presented no conclusive evidence that CDH10 is a gene which causes autistic symptoms. It only states that there is a correlation between mutations around CDH10 and about 15% of people who have an ASD.
However, most of the articles accurately represented the truth of the study as outlined below. Times Online and US News have--like many others--sacrificed media hype for accurate reporting of the facts. SInce this is such a recent article, it is still being protected by the scientific community and has yet to reach publications such as Newsweek and other, more widely read publications. As more information is gathered, it is possible that the media will take the opportinuty to cry "cure!" but for the moment, accurate reporting seems to be winning the battle.
This was one of the few articles which forsook a miracle in order to deliver the real story. As an interview with one of the researchers who actually took part in the study, it is as true to the facts as possible.
Without knowing how the SNPs or variations affect the CDH10 gene, we can only use this most recent finding as a warning sign. If children were screened when born, it would give their parents a chance to prepare for the possibility of an ASD developing in their child.
In future it may be possible to use gene therapy as a method for curbing the effects of Autism. A child who shows the genetic markers found by this study could be treated early on to reduce the phenotypic effects of the mutations. However, until we know how the CDH10 might cause autistic effects in children, we have no way to design a therapeutic approach. A 2005 study found that some patients with ASDs have local overconnectivity within the frontal cortex, but lack connections between the frontal cortex and other parts of the brain (Courchesne et al, 2005). Cadherins, like CDH10, are certainly culprits for this kind of phenotype. Overexpression of one cadherin isoform or underexpression of another might lead to some parts of the brain becoming well-connected but communication between different parts of the brain becoming stunted.
Finally, there is the fact that--as earlier studies suggested--more than one gene regulates the autistic phenotype. This study found significant markers in only 12-18% of autistic children; what causes the other 88-82% of cases?
Oustide of this study's relevance to ASDs, it provides something more to the global scientific community. It was an example of a successful genome-wide association attempt. Even if we cannot yet interpret their results, they have put together one of the largest ASD studies and successfully found variants with genome-wide association. In future, collaborative efforts like this may be the solution for other genetic diseases with variable phenotypic expression. The more data that is collected, the more significant results can be drawn from it.
Courchesne, E and Pierce, K. Why the frontal cortex in autism might be talking only to itself: local over-connectivity but long-distance disconnection. Current Opinion in Neurobiology 2009. 15(2) 225-230.
Kai Wang, Haitao Zhang Deqiong Ma, Maja Bucan, Joseph T. Glessner, Brett S. Abrahams, Daria Salyakina, Marcin Imielinski, Jonathan P. Bradfield, Patrick M. A. Sleiman, Cecilia E. Kim, Cuiping Hou, Edward Frackelton, Rosetta Chiavacci, Nagahide Takahashi, Takeshi Sakurai, Eric Rappaport, Clara M. Lajonchere , Jeffrey Munson, Annette Estes, Olena Korvatska, Joseph Piven, Lisa I. Sonnenblick, Ana I. Alvarez Retuerto, Edward I. Herman, Hongmei Dong, Ted Hutman, Marian Sigman, Sally Ozonoff, Ami Klin, Thomas Owley, John A. Sweeney, Camille W. Brune, Rita M. Cantor, Raphael Bernier, John R. Gilbert, Michael L. Cuccaro, William M. McMahon, Judith Miller, Matthew W. State, Thomas H. Wassink, Hilary Coon, Susan E. Levy, Robert T. Schultz, John I. Nurnberger, Jonathan L. Haines, James S. Sutcliffe, Edwin H. Cook, Nancy J. Minshew, Joseph D. Buxbaum, Geraldine Dawson , Struan F. A. Grant, Daniel H. Geschwind, Margaret A. Pericak-Vance, Gerard D. Schellenberg & Hakon Hakonarson. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009. (459) 528-533.
Kotz, Deborah. "What the Autism Gene Finding Means for Parents." US News. <http://health.usnews.com/articles/health/childrens-health/2009/04/28/what-the-autism-gene-finding-means-for-parents.html> Accessed September 16 2009.
Eunice Kua, Michael Reder, and Martha J. Grossel. 004. "Science in the News: A Study of Reporting Genomics." Public Understanding of Science. 3: 309–3
Henderson, Mark. "Biggest autism study identifies gene variations behind condition." Times Online.<http://www.timesonline.co.uk/tol/life_and_style/health/article6188340.ece> Accessed September 16 2009.
This web page was produced as an assignment for an undergraduate course at Davidson College.