“MeCP2 has an important role in fine-tuning the amount of synaptic responses, having just the right amount of MeCP2 and the right number of synapses drives healthy brain development"
- Hsiao-Tuan Chao, M.D./Ph.D. graduate student, Baylor College of Medicine
A study published in Neuron reports evidence that problems in synapse formation early in post natal development give rise to mental retardation, Rett syndrome, autism and other developmental disorders. The protein MeCP2 (methyl-CpG binding protein 2) is critical in determining the number of synapses. And the correct number of synapses is necessary for healthy brain development. A mutation of the MeCP2 gene results in too little of the protein which further results in girls developing Rett syndrome. Boys with too much MeCP2 have spasticity and mental retardation with autism-like behavior.
As reported on the Baylor College of Medicine web site:
“The beauty of this result is that this critical process in the development of synaptic connectivity in the brain is tightly regulated by the amount of MeCP2,” said Rosenmund. “It is one of the strongest pieces of evidence that mental retardation and autism-like diseases originate with problems in synapse formation.”
Chao said, “It suggests that the pathways in which MeCP2 is involved and the proteins it regulates are probably critical for how the brain can determine how many synapses to make as it’s developing.”
“This determination of how many synapses to make happens early in life,” said Zoghbi. “If it’s not right, then the brain undergoes secondary changes to try to compensate. This is a big important observation and opens up ways to think about adult diseases that involve loss of synaptic function. It is also interesting that patients who lack this protein or have too much have features of autism. More and more, data point to the possibility that autism is a disorder of abnormal function of the synapse.”