Autism May Be Linked to Mutation in the STRAD-Alpha Gene
Monday, June 14th, 2010
Though Autism is often considered to be the incurable condition, there are researchers all over the world studying and making connections between Autism and other psychological disorders. Most recently, a team at the University of Pennsylvania School of Medicine discovered a connection between a rare disease affecting Amish children and the commonly diagnosed Autism and Epilepsy disorders.
The researchers found that a mutation in the STRAD-alpha gene can cause a rare but severe brain disorder known as Polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE). Characterized by abnormally increased brain size, PMSE also affects sufferers with its cause of difficulties with cognitive function and epilepsy that is not responsive to medication or treatment.
In animal case studies, animals that lacked the STRAD-Alpha (also called: STRADA) protein, the pathway for another protein called mTOR is opened. In humans, this opening may promote abnormal cell growth that leads to cognitive impairments especially in children. It’s been found that STRADA and mTOR are proteins that make up the complicated molecular structures that are often found in Autism and other behavioral conditions.
Mutations of the mTOR proteins are found in several disorders including uberous sclerosis complex (TSC) and other conditions that feature brain tumors. Unlike PMSE, it’s not STRADA but a different protein is affected by the pathway opening. TSC is a much more common disorder with approximately 1 million sufferers worldwide. Researchers find it to be very interesting that a rare disorder like PMSE and a not-so-rare TSC are comparable by their molecular pathways.
Adding PMSE to the list of disorders that is affected by the mTOR pathway is a great advancement in the treatment of Autism. Because PMSE shares some of the same symptoms and characteristics of Autism, it sheds a bit more light on Autism and other similar disorders. The more information that researchers find about possible causes and sources of Autism, the more that they can work towards successful treatments.


If you’re like the majority of the population you’re not exactly a master at all of the technical terms that are thrown about in studies of various treatments for Autism. Whenever I do any kind of article reading, I’m sure to have my search engine open and ready to go, in order to find the “lay-man’s terms” for different words and medical jargon. Truth be told, it’s a lot


We often speak about Autism in children since this is often when the disorder is diagnosed. Parents are much more aware of the common symptoms of Autism including short attention spans, slow speech, specific repetitive behaviors and social interaction difficulties. Parents are quick to ask their doctors as soon as these things become apparent. With the growing rate of diagnosed Autism cases, this also leads one to wonder- what happens to autistic children as they grow older? What happens when they aren’t children anymore?
teeth are important in both children and adults.
Last week, I looked at how genetic abnormalities may be linked to autism and today I’m going to take that a bit further and look at the link between the genetic codes, autoimmune diseases, autism and gluten - an interesting recipe!