This web page was produced as an assignment for Gen677 at UW-Madison Spring 2009.
About Autism and NrCAM...
The goal of this webpage is to provide some background knowledge about Autism and share some of the current research going on in autism genetics. The main focus of the genetic analysis found on the webpage surround NrCAM as a potential gene to target in autism research.
Autism
Autism is a common developmental brain disorder that is usually recognized and diagnosed within the first three years of a child's life. Social interaction and communication skills are often impaired though autism is part of a group of autism spectrum disorders (ASD) that can affect individuals in varying forms and to different degrees (1). Symptoms vary greatly between autistic patients, some individuals can be very highly functioning while others are completely non-verbal making communication extremely difficult. Symptoms overlap within ASDs, making diagnosis difficult in some cases. Early signs of autism include delayed acquisition/use of language, adherence to specific routines, lack of interest in forming relationships, repetitive behaviors, and fixation on inanimate objects (2). About 1 in 150 children are born with autism, affecting all ethnic groups and socioeconomic classes alike; however, the disease is four times as likely to affect males compared to females. In the United States, the incidence of autism ranges from 1 in 81 affected children in Minnesota, to 1 in 432 affected children in New Mexico, yet on average no geographic location seems to have higher prevalence (3).
NrCAM gene
Autism has both genetic and environmental etiology, and much research is currently being conducted in order to identify genes which may be responsible. One such gene is NrCAM, or neuronal cell adhesion molecule gene, located in the known autism susceptibility locus 7q, and expressed in brain tissue encoding a receptor involved in the central nervous system (4). These cell adhesion molecules are members of the immunoglobin family, and are involved in neuronal adhesion and neuron-neuron signaling. The NrCAM protein is predicted to localize in the plasma membrane where it is implicated in ankyrin binding as well as cytoskeletal maintenance. This protein is expresses at elevated levels in the brain and spinal cord during central nervous system development. A recent study has looked at 18 single nucleotide polymorphisms (SNPs) in the NrCAM gene, and found that seven of these SNPs were significantly associated with autism (4). The results of this study and others, combined with the important role of NrCAM in brain development will propel further research in the future. The purpose of this project is to characterize the relationship between the NrCAM gene/protein and autism. NrCAM utility as a target gene will be assessed based upon previous research in model organisms and based on structural and functional properties of the NrCAM gene/protein. Throughout the semester I hope to present the latest research in the field, as well as draw attention to things such as treatment options, education, and social breakthroughs in the world of autism. I will also be maintaining a blog to discuss my own experiences in working with a 9-year old boy with autism.
Below is a video of Jason McElwain, an autistic student manager on his high school basketball team. Jason was given the opportunity to put on the uniform and play in a game--and he took full advantage of it. Jason scored 20 points in four minutes in the game.
Recent visitors
1. Autism Society of America. About Autism. Retrieved February 1, 2009 from
http://www.autism-society.org/site/PageServer?pagename=about_home
2. National Institute of Neurological Disorders and Stroke. Autism Fact Sheet. Retrieved February 2, 2009 from
http://www.ninds.nih.gov/disorders/autism/detail_autism.htm
3. Fighting Autism. Autism Prevalence, Public Schools State Rankings. Retrieved February 2, 2009 from
http://www.fightingautism.org/idea/autism-state-rankings.php
4. Marui T, Funatogawa I, Koishi S, Yamamto K, Matsumoto H, Hashimoto O, Nanba E, Nishida H, Sugiyama T, Kasai K, Watanabe K, Kano Y, Kato N. Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism. Int J Neuropyschopharmacol. 2009 Feb;12(1):1-10. Epub 2008 Jul 30.
Brett Maricque
[email protected]
Last updated: 5/13/2009
http://www.gen677.weebly.com
