New Hope for Autism Treatment

autism-the-world-from-a-different-perspective-72dpiJames Gonzales (11 AM Micro) found an article from Science Daily describing new research into autism. As James notes, currently autism research is focusing on a number of etiologic agents, including infectious agents, environmental factors, and genetic causes. His summary focuses on one of the most highly correlated genetic causes, and the surprising use of an anti-fungal medication to possibly reverse the effects of the disorder. Here is James’ summary:

Autism spectrum disorder is defined as a developmental disorder that appears in the first 3 years of life, and affects the brain’s normal development of social and communication skills (National Library of Medicine, 2014). Autism spectrum disorder can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances (Autism Speaks, 2014). Although those who have Autism spectrum disorder tend to have disabilities, some with this disorder excel in visual skills, music, math and art.

Until recently, the causes of autism were unclear. The risk factors for autism consist of a combination of autism risk genes and environmental factors that influence brain development. The environmental factors that can lead to autism consist of: events before and during birth, advanced parental age, and maternal illness during pregnancy (Autism Speaks, 2014).

According to the United States Centers for Disease Control and Prevention, around 1 in 68 American children are identified to have some form of Autism spectrum disorder; it is estimated that 1 in 42 boys and 1 in 189 girls have been diagnosed, which is a 10 fold increase in prevalence in the past 40 years. Autism spectrum disorder affects over 3 million individuals in the United States (Autism Speaks, 2014). Among all the types of Autism spectrum disorder, Fragile X Syndrome is the most common genetic cause of this disorder. It affects around 1 in 4,000 boys and 1 in 6,000 girls. Currently, there is no cure (McGill University, 2014).

New hope of treating Fragile X Syndrome has arisen because of studies that have shown that a cancer drug candidate could reverse behavioral symptoms. This can be done with the aid of an anti-fungal called cerocosporamide that has shown to block the pathway and improve sociability in mice with the condition (McGill University, 2014). Although this was performed in mice rather than humans, this proves to be a stepping stone in the right direction for finding a cure.

Studies have shown that a key molecule in patients who have Fragile X Syndrome is eIF4E. The molecule eIF4E is responsible for excess production of protein in the brain and can cause behavioral symptoms that include learning disabilities, such as delays in speech and language development. An enzyme called MMP-9, produced by eIF4E, breaks down and re-orders the connections between brain cells. An excess in MMP-9 disrupts communication between brain cells, which leads to changes in behavior (McGill University, 2014). A team of scientists at McGill University has proven that treatment with the anti-fungal agent cerocosporamide blocks the activity of eIF4E, therefore reducing the amounts of MMP-9 in the brain; the lower amounts of MMP-9 have reversed the behavioral symptoms in mice with Fragile X Syndrome.

This discovery is novel to the medical world because it has lead to cured symptoms of Fragile X Syndrome, which  can lead to a cure in the future for humans to capitalize on. It is important for medical professionals to continue to research the benefits of cercosporamide and other anti-fungal agents in order to find cures to this rising disorder.

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About ycpmicro

My name is David Singleton, and I am an Associate Professor of Microbiology at York College of Pennsylvania. My main course is BIO230, a course taken by allied-health students at YCP. Views on this site are my own.

Posted on December 3, 2014, in Guest Post. Bookmark the permalink. 2 Comments.

  1. Good morning, Bio Folks!
    I am a psychologist who has spent many years working with people with autism and other developmental disabilities – in the interests of conserving space, I’ll spare the readers a lengthy CV. To preface my comments, I enjoy your thoughtful article reviews on topics like depression and autism. I teach Biological Psychology to graduate psychology students in eastern PA and I do a lot of work in neuropsychological assessment; consequently, the intersection of biology and behavior is a huge interest of mine in general.

    My comment about biopsych research is to take it ALL with a HUGE grain of skeptical salt. As biological research has matured through better brain imaging techniques, access to genetic profiles, and increased knowledge of chemical/microbial activity, psychological research has not kept pace. More precisely, psychological/psychiatric diagnostic integrity is still quite poor so research that is based on diagnoses is doomed from the start. No reliability means no validity. With autism in particular, there is a vast array of clinical/neuropsychological presentations (as is happily mentioned in your review!); in fact, “autism” is probably many different disorders with some unifying symptomatic threads. It would probably shock you to learn of how many clinicians and researchers are highly critical of the current diagnostic taxonomy (The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition). As a colleague once said, “If you’ve seen one kid with autism, you’ve seen one kid with autism.”

    Depression doesn’t fare much better I’m afraid. Because the word enters into our everyday vocabulary, the clinical standards of diagnosis have softened. (There are other reasons too… like assuming that everyone who takes an SSRI has depression.) Like, after getting your mid-term grades back from Dr. Singleton, you might look around the room at the people who are crying and say, “Boy, they look depressed!” They are sad.

    Anyway, just wanted to comment that the “psych” part of biopsych research needs to get better (much better) before anything conclusive can come out of the literature. Keep the good work coming!

  2. Thank you Dr. Barnes for you comments and words of encouragement. In Microbiology, autism is ALWAYS a bit of a sore subject because of the anti-vax crowd. Fortunately, the Autism Speaks link that James provided above is not an anti-vaccine advocate, and notes on their FAQ page that no link has been demonstrated between any autism spectrum diagnosis and childhood vaccines.

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