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Researchers Link ‘Autism Gene’ to Specific Behaviors

Update Date: Jun 04, 2013 01:24 PM EDT

Autism, a neurological disorder that is characterized by impaired social learning abilities and communication complications, has been the subject of numerous studies. Researchers have attempted to find the exact causes of this disease in order to develop better and even more effective ways of combatting it or treating it. Due to all of the studies that have gone into autism research, scientists know that a genetic mutation called Fragile X syndrome (FSX) is responsible for inherited autism. Researchers now have tied this genetic malady to the behavioral symptoms often associated with autistic people.

The researchers with senior author Dr. Carlos Portera-Cailliau, an associate professor in the departments of neurology and neurobiology at UCLA, utilized mouse models and studied neuron brain activity in mice that had Fragile X syndrome. The mice' brain activity was observed when they were asleep and awake. The UCLA team found that in both situations, the neuronal networks had too much activity going on in comparison to a normal brain. The researchers believe that it is this excess activity that they called neuronal excitability that could be responsible for the symptoms, which include seizures, learning disabilities, or sleep disturbances.

"We wanted to find the link between the abnormal structure of synapses in the FXS mouse and the behavioral abnormalities at the level of brain circuits. That had not been previously established," said Portera-Cailliau, according to Medical Xpress. " So we tested the signaling between different neurons in Fragile X mice and indeed found there was abnormally high firing of action potentials-the signals between neurons-and also abnormally high synchrony-that is, too many neurons fired together. That's a feature that is common in early brain development, but not in the adult."

The researchers believe that this neuronal excitability hinders proper brain development overall. But during sleep where memory is encoded, this excess activity could severely disrupt memory development, making it more difficult for the individual to learn. The researchers now plan on confirming the finding that Fragile X mice did have dramatic responses to sensory stimuli when compared to healthy mice.

The study was published in Nature Neuroscience

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