Recent research has shed new light on a particular gene mutation linked to an unusual kind of autism.
A brand-new research study is assisting scientists better understand the link between the anomaly of a gene called MEF2C and an uncommon form of autism called MEF2C haploinsufficiency syndrome.
The study, which appears in the journal Biological Psychiatry, is the outcome of a cooperation between the Medical University of South Carolina (MUSC) in Charleston and the Greenwood Genetic Center, likewise in South Carolina.
In general, individuals have a set of MEF2C genes. However, for individuals with MEF2C haploinsufficiency syndrome, just one of them functions effectively. The other is not powerful enough to mediate brain development as it should normally.
According to a post in the journal Neurogenetics, MEF2C haploinsufficiency syndrome is “related to intellectual disability, autistic functions, epilepsy, and abnormal movements.”
Although scientists understand that a shortage in the MEF2C genes is accountable for MEF2C haploinsufficiency syndrome, they do not yet understand exactly how the genes control brain development.
To explore this issue, the researchers conducted an animal research study. In it, they altered the genes in mice and compared the results with common symptoms in people.
After examining the literature, they discovered that the mutations in the Mef2c gene impacted its DNA binding area. This could impact numerous other genes that require this binding to be revealed.
When the scientists compared the abnormal expression of genes in the mice with human genes, they discovered changes in 2 key locations: neuronal cells and microglia cells. When they modified genes in