Currently, there is no specific medication or “cure” for those on the autism spectrum. There is also no specific, definitive cause for all cases of autism. There is, however, research showing that single-gene disorders appear to affect 15-20% of those with autism spectrum disorder (ASD). A recent study has identified a protein in a single-gene disorder that may be the cause of many of the ASD symptoms and behaviors.
Some people on the spectrum have a single-gene genetic disorder. Some of these include Angleman syndrome, Fragile X syndrome, tuberous sclerosis, and other chromosomal disorders. Fragile X (FXS) is one of the most commonly recognized causes of ASD.
Fragile X is pretty rare, affecting only 1 in about 5000. FXS can cause learning deficits, intellectual disability, and abnormal brain development. Many children with FXS may become anxious quite easily or be afraid of new situations. The FMR1 gene was discovered in 1991, proving the syndrome is inherited. There is now a test that can identify a carrier.
Fragile X Syndrome and Autism Spectrum Disorder Behaviors
Many of the behaviors between FXS and ASD present similarly. Some include:
Attention deficit disorder with or without hyperactivity
Difficulty making eye contact
Focused interest on one particular topic or item
Echolalia (repeating something they hear)
Difficulty processing certain sensory stimuli (like sounds and smells)
Many with FXS can be very social once comfortable in a setting. In general, they are friendly, like to help others, and have a healthy sense of humor.
Significantly more males are on the autism spectrum, and males with FXS tend to be more affected than females.
The Protein Study
A research team out of Michigan State University has been in search of a “treatment” for FXS. They may have actually found a target. They began with close to 800 protein targets, seeking out the one that was creating the symptoms and behaviors of the syndrome. Lo and behold, they found THE one. Hongbing Wang, lead physiologist, likened it to “looking for a needle in a haystack.”
The team identified protein ADCY1. In mouse FXS subjects, approximately 25% more ADCY1 was found than in developmentally-typical, healthy mice. The mice with an abundance of the protein had the FXS behaviors. When the scientists reduced the expression of the protein, the autism-like behaviors disappeared.
This study, published in Nature Communications, is an incredible discovery.
What this finding suggests is that targeting the specific protein with a medication that suppresses it, could help an individual with FXS and ASD experience fewer behavioral symptoms.
It will be years before human clinical trials would begin. Nevertheless, it is possible that in the future, adults with ASD can benefit from a drug that can potentially decrease or eliminate many of the behaviors typical to the disorder.
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