Scientists Pinpoint the Underlying Causes of Autism, Epilepsy, and Schizophrenia

The Yale team discovered links to the molecular control of neurotransmitters and the neurodevelopmental disorders.
Fabienne Lang

You may have come across people suffering from neurodevelopmental disorders. These diseases range from autism to epilepsy and schizophrenia. 

Up until now, these disorders have been linked to the disruption of the Gamma-aminobutyric acid (GABA) neurotransmitter. It is a key inhibitory neurotransmitter of the nervous system found in mammals. 

However, the actual underlying reasons for the disruptions have yet to be discovered. 


The search continues

A team of Yale scientists, along with their international colleagues, led by Dr. Kristopher Kahle, an assistant professor of neurosurgery, pediatrics, and cellular & molecular physiology, took the matter into their own hands.

The team has managed to pinpoint a molecular mechanism that is critical to regular brain development. If this mechanism becomes impaired, it causes autism-related symptoms in mice, as per the research. 

The research focused on a transporter, KCC2, which plays many roles in the creation of central neurons. These neurons are linked to a few neurological conditions and are also in charge of discharging chloride in cells. 

Scientists Pinpoint the Underlying Causes of Autism, Epilepsy, and Schizophrenia
An anomalous distribution of proliferating neurons, showing evidence of impaired regulation of KCC2. Source: Kahle Lab/Yale School of Medicine

This chloride in the cells is then responsible for regulating GABA's actions. GABA's actions inhibit the activity of neurons, and it plays an important role in the development of the brain, along with other neurological functions. 

When KCC2 malfunctions, this can lead to disorders such as autism, epilepsy, and neuropathic pain in humans. 

What Kahle and his international team focused on was phosphorylation. It is a chemical change process that affects the function and structure of KCC2.  

In one of their papers, the team discovered that mice that held two strands of a mutant KCC2 gene, which pretends to be phosphorylation, died only a few hours after birth, sometimes as soon as four hours. The rodents suffered intractable seizures and hyper-excitable neurons before their untimely deaths. 

In their second paper, the scientists described that mice with just one copy of the mutant KCC2 gene displayed neurodevelopmental disorders after birth. These disorders resembled autism. 

Kahle said, "Because this phosphorylation process is reversible, modulating it with drugs may make it possible to tune GABA signaling for therapeutic benefit."

There is still more research to be carried out, but it is a promising beginning. The researchers published the two papers on Tuesday in Science Signaling.

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