Autism Spectrum Disorder (ASD) is an abnormality of brain development that is usually diagnosed in the first years of life, and that continues to be a challenge for the scientific community in many aspects; which is why many myths have circulated about it, especially regarding its origin.
Now, a publication in the journal Nature Communications sheds hope regarding a possible effective treatment for autism. It is a drug intended to restore an electrical signaling imbalance in the brain, which occurs in virtually all forms of autism spectrum disorder.
The drug, called NitroSynapsin, has been proven effective in a mouse model . “We think it could be effective against multiple forms of autism,” according to lead researcher Stuart Lipton, a clinical neurologist.
The new study stems from a 1993 study in which Lipton and his lab identified a gene called MEF2C as a potentially important factor in brain development.
This breakthrough led Lipton and his colleagues to the discovery that disruption of the mouse version of the MEF2C gene in the brain early in fetal development causes mice to be born with severe autistic-like abnormalities.
Since that discovery in mice in 2008, other researchers have reported many cases of children having a very similar disorder, resulting from a mutation in one copy of MEF2C: Human DNA normally contains two copies of each gene , one copy inherited from the father. and one from the mother.
In fact, the condition is now called MEF2C Hafloinsufficiency Syndrome (MHS).
The MEF2C gene encodes a protein that functions as a switch that activates the expression of many genes.
Large-scale genomic studies in recent years have found that the mutations behind various autism disorders often involve genes whose activity is activated by the MEF2C gene.
For the study, the researchers created a laboratory model: a mouse with only one working copy of the MEF2C gene , rather than the usual two copies.
The mice showed disturbances in spatial memory, abnormal anxiety, and abnormal repetitive movements. Analysis of mouse brains revealed a number of problems, including an excess in key brain regions of excitatory signaling (which causes neurons to fire) over inhibitory signaling (which suppresses neuronal activity).
That is, these two important types of brain signals were unbalanced when one of the copies of the MEF2C gene was missing.
This imbalance is believed to explain many of the main features of these disorders , including cognitive and behavioral problems, and an increased chance of epileptic seizures.
Promising results
The researchers treated the mice for three months with NitroSynapsin. The drug helped reduce excess excitatory signaling in the brain. During the study, the team found that the compound reduced brain electrical imbalance and also reduced abnormal behaviors in the mice and increased their performance on cognitive and behavioral tests.
“Because MEF2C is so important in driving other genes linked to autism, we are hopeful that a treatment that works for this MEF2C haploinsufficiency syndrome will also be effective against other forms of autism,” explains Lipton, “and in fact we already have preliminary evidence of it. “
But, for now, it will be necessary to verify that this drug has the same positive results in humans, as expected. The good news is that you are now ready to enter human clinical trials.
Reference: ‘NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism’. Stuart Lipton. Nature Communications 8, Article number: 1488 (2017). doi: 10.1038 / s41467-017-01563-8
