Researchers are constantly looking for answers. What exactly is autism? What causes it? Most importantly, can it be "cured" or reversed?

Autism - is it genetic?

The findings are becoming more clear – researchers are creating a link between defects in chromosomes and autism. They've found that 7% of those with autism are missing a piece of their chromosome 16. This chromosome is known as 16p11.2 deletion syndrome, which often leads to neurodevelopmental disability and language skills impairment.

If autism is truly tied to chromosomal defects, this would imply that autism is genetic. However, the caveat is that the mechanisms that link the chromosomal defect with the neurodevelopmental condition still stand a mystery. Further research has been conducted that concludes chromosomal abnormalities were not detected in other teens, therefore the relation between the genetics and autism still needs to be investigated further. 

Reversing autism with a cancer drug

But – if autism can really be tied to genetics, the latest research is promising. A study published by the Journal of Neuroscience demonstrates that the use of an experimental cancer drug was able to reverse this genetic form of autism in mice. Scientists at the Cardiff University in the UK used experimental drugs that were created to treat cancer to restore normal brain function in mice with ASD-like symptoms.

Scientists were prompted to try a cancer drug on the mice because the mice who were missing a piece of their chromosome 16 also had higher levels of a protein called ERK2, which has been a target in cancer therapy. 

The unexpected result? The cancer drugs stopped ERK2 from reaching the rodent's brains, which actually reversed the ASD-like behavioral, neurological, and sensory symptoms in the mice. A quote from Medical News Today:

The trial drug not only provided symptomatic relief when administered to adult mice, but also prevented genetically predisposed mice from being born with the form of ASD.

With these findings, scientists are hopeful they can complete further research and eventually create clinical trials to treat humans with ASD.

Resources

• https://www.sciencedirect.com/science/article/pii/S111086301500049X

• http://www.jneurosci.org/content/early/2018/06/22/JNEUROSCI.0515-17.2018

• https://www.medicalnewstoday.com/articles/322274.php