This web page was produced as an assignment for Gen677 at UW-Madison Spring 2009.
NrCAM in the news
Although the genetic component of autism is currently being investigated at great lengths, the scientific literature available on the subject is sparse, and popular literature on the issue is even harder to locate. As a result, the current literature does not offer a review of the NrCAM gene directed to the non-science population.
The following commentary will look at an article summarizing work done on another gene thought to be associated with autism, the extracellular signal regulated kinase 1(ERK 1) gene. The article focuses on research looking at the ERK signaling cascade which is known to be involved in brain development, learning, and cognition, and is thought to be deficient in developmental disorders such as autism.
Lack of Specific Gene Plays Role in Autism, Study Shows
ScienceDaily, Feb. 12, 2009. [1]
This article briefly reports what might be a breakthrough in our knowledge of the genetic component of autism. Dr. Gary Landreth and his team at the Case Western Reserve University School of Medicine have recently identified that a number of developmental disorders including autism may be linked to the modulation of an important intracellular signaling pathway. This pathway is dependent upon a class of enzymes know as extracellular signal regulated kinases (ERKs), and is thought to be involved in brain development, learning, and cognition. Recent findings have shown that deletions or other mutations in the ERK 1 gene are related to a subset of developmental disorders known as neuro-craniofacial-cardiac symdromes (NCFCs). Symptoms of these disorders include cardiac deficiencies and craniofacial defects which can be recognized in autistic children as well, and suggest to scientists that the ERK 1 gene may be crucial in the development of autism. Researchers are still unsure as to the exact mechanism of genetic modulation of the ERK gene, but research has demonstrated that a loss of the ERK gene is associated with autism while other modifications result in NCFC-like diseases. Scientists are hypothesizing, however, that this class of NCFC syndromes arise from genetic modifications in this single pathway, and have preliminary data pointing them in this direction. The article reports that, "very recently it was discovered that 1 percent of autistic children have either a loss or duplication in a region of Chromosome 16 that encompasses the gene for ERK 1." The article gives a sense of hope in the future of genetic research related to autism and reflects the progress being made daily in the field.
I found the article to be concise and easy to understand for individuals at varying levels of genetic background. The author did a nice job of summarizing the relationship between the ERK intracellular signaling pathway and diseases such as autism and other NCFCs, and brought out some interesting similarities between the disorders including both cardiac and craniofacial defects which affect autistic children and children with NCFCs. Also, the author provided a simplified, yet useful explanation of the ERK pathway and how it was involved in development and cognitive function. I feel the article was effective in relaying the scientific research to the public in an organized, manageable fashion.
Despite the overall effectiveness of the article, I do feel that it fell short in a few areas. There was only a sentence or two dedicated to informing the reader about autism, its symptoms, and implications for those affected by it. The author makes a very broad statement about social ability and communication, but does not discuss some of the more defining characteristics of autism. I feel the article should spend a bit more time introducing the disease and describing the effects it has on individuals with it as well as the community around those individuals. Also, the article does not analyze the genetic modifications actually contributing towards the altered pathway in much detail. This is partly to eliminate confusion among its readers, but once a basic overview of the genetics involved is presented, it would be nice to learn more about the specific chromosomal alterations involved. Overall, I enjoyed the article and foresee exciting new developments in our understanding of the genetic basis of autism in the near future.
http://www.sciencedaily.com/releases/2009/02/090209094403.htm
Other interesting articles:
Toddler Brain Difference Linked to Autism
CNN.com, May 4, 2009.
by Danielle Dellorto [4]
http://www.cnn.com/2009/HEALTH/05/04/autism.brain.amygdala/index.html
Autism parents' plea: Understand kids' meltdowns
CNN.com, April 2, 2009
by Madison Park [5]
http://www.cnn.com/2009/HEALTH/03/31/irpt.autism/index.html?eref=rss_topstories
Court Says Vaccine Not to Blame for Autism
The New York Times, February 12, 2009.
by Donald G. McNeil Jr. [2]
http://www.nytimes.com/2009/02/13/health/13vaccine.html?ref=health
Police: Professor Beaten to Death by Autistic Son
ABC News, February 11, 2009.
by Sarah Netter [3]
http://abcnews.go.com/US/AutismNews/story?id=6848289&page=1
MMR doctor Andrew Wakefield fixed data on autism
Times Online, February 8, 2009
by Brian Deer [7]
http://www.timesonline.co.uk/tol/life_and_style/health/article5683671.ece
Study: No link between measles vaccine and autism
CNN.com, September 3, 2009. [6]
http://www.cnn.com/2008/HEALTH/09/03/measles.autism/index.html
1. Science News. 2009, February 12. Lack of Specific Gene Plays Role in Autism, Study Shows. ScienceDaily. Retrieved from http://www.sciencedaily.com/releases/2009/02/090209094403.htm on Feb. 12, 2009.
2. McNeil, D. 2009, February 12. Court Says Vaccine Not to Blame for Autism. The New York Times. Retrieved from http://www.nytimes.com/2009/02/13/health/13vaccine.html?ref=health on Feb. 12, 2009.
3. Netter, S. 2009, February 11. Police: Professor Beaten to Death by Autistic Son. ABC News. Retrieved from http://abcnews.go.com/US/AutismNews/story?id=6848289&page=1 on Feb. 12, 2009.
Brett Maricque
[email protected]
Last updated: 5/13/2009
http://www.gen677.weebly.com
