Mouse Model Provides Insight into MEF2C Haploinsufficiency Syndrome

Christopher Cowan and his lab at the Medical University of South Carolina recently conducted a study in mice in order to understand how defective MEF2C genes impact brain development. A defect in this gene is linked to MEF2C haploinsufficiency syndrome, which is a rare type of autism. Cowan was also the one to link this syndrome to Fragile X syndrome.

This study was published in the journal Biological Psychiatry. 

The Study 

Essentially, this team studied mice who had this defective gene and real patients suffering from the same condition. These patients were drawn from the Greenwood Genetic Center. For patients with this syndrome, one of the MEF2C genes does not function at all, and the function of the second gene isn’t enough to maintain proper brain development. Symptoms of the syndrome include-

  • Epilepsy
  • Inability to communicate with speech
  • Repetitive movements
  • Decreased muscle tone
  • Breathing issues

The mice that were given this same presentation of the two genes had similar symptoms. The communication issues in these mice was very similar to those in the patients. These include-

  • Social deficits
  • Hyperactivity
  • Repetitive movements
  • Reduction in their ultrasonic vocalizations (a measure of their form of communication)

Potential Treatments

These researchers are hopeful that a greater understanding of these genes will lead to innovative therapies. Since they know MEF2C is lacking, they need to find a way to introduce a healthy version of the gene into the body while the brain is still developing.

They also explain how this research has furthered understanding of neurodevelopment disorders as a whole by illuminating how complex they can be. Treatment typically must involve a variety of cell types.


These researchers also discuss how valuable it has been to have collaboration and communication across institutions. It has helped to provide real-world evidence from patients and their families experiencing these symptoms day to day.

Another huge benefit has been social media. One notable example in rare disease research was the communication of Rett syndrome families over the internet. Together, these families found a common symptom amongst their children- gallbladder disease. This had not been documented anywhere previously, and its discovery helped researchers better understand the condition.

Rare diseases may pose challenges due to their rarity, but determined parents and families make the process of discovery much easier. Further, this communication provides support, allowing individuals to talk with others who are going through similar things, discuss challenges, and offer suggestions.

You can read more about this mouse model study here.

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