Speech Therapy

A New Research Reveals the Connection Between MECP2 and Rett Syndrome

The new research at the Huda Zoghbi laboratory, Houston, Texas has thrown light on the connection between the gene MECP2 and the neuropsychiatric disorders like Rett syndrome and autism. The gene MECP2 if removed, can affect the function of particular neurons in the brain that are responsible for the flow of information.

The Gene MECP2 and Rett Syndrome: The disorder Rett affects children (mostly females) causing them to lose speech and motor controls along with causing several other digestive and breathing problems.

  • An earlier research at the same laboratory found that the mutations of MECP2 is potentially responsible for the disorder Rett.
  • The research conducted now has also found out that this particular gene could also be responsible for autism and other child bipolar disorders.
  • Based on the research, certain mouse models have been developed that exactly depict the disorder’s symptoms in humans. These mouse models are by far the best models of neurological diseases.

Effect of MECP2 Removal from Neurons: The earlier researches have already revealed that the removal of this gene would result in a full case of the disorder Rett.

  • So, now the research focuses on removing the gene from the neurons in the brain, so that the relation between the neurons and certain neurological symptoms can be studied.
  • Some neurons in the brain transmit gamma amino butyric acid (GAMA). The GAMA is responsible for the proper functioning of the nervous system as it controls the flow of information in and out of the brain.
  • As a part of the research, a 30 percent of GAMA reduction in neurons of the mice, made them exhibit symptoms which are closely related to the disorder Rett itself.

Results of the Research: The study came up with the following results-

  • increasing the activity of GAMA can potentially alleviate the symptoms of the disorder
  • also the study implicates that, if a reduction of 30 percent GAMA could cause Rett, then further alleviation could lead to other neuropsychiatric disorders.

Finally, the relation between the gene MECP2 and Rett syndrome has discovered a new pathway between the same gene and other potential brain disorders. Further research in this area could be helpful in improving the treatment options of these disorders, opined Dr.Zoghbi.

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