Researcher Identifies Cellular Defect That May Contribute To Autism
From Columbia University College of Physicians and Surgeons
Defect in neuroligin gene disrupts firing of neurons and may result in autism
A defect in the neuroligin genes had previously been observed in autistic patients, but its functional significance was not yet understood. Scheiffele’s study showed that in rat neurons without any neuroligin, connections between neurons are altered in a way that is strikingly similar to those found in autistic children.
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Each neuron in the brain receives many different inputs – some are
excitatory and signal the neuron to fire, and some are inhibitory and
signal the neuron to stop firing. Scheiffele’s research team found that
neuroligin genes are responsible for regulating the balance between excitatory and inhibitory synaptic function. A defect in neuroligin leads to a selective loss in inhibitory function and thereby impairs the fine-tuning of
neuronal connectivity, a neurological problem that is understood to play a role in autism.
The causes of autism have long remained a mystery, but new research
from Columbia University Medical Center has identified, for the first
time, how a cellular defect may be involved in the often crippling neurological
The research, which is published in today’s issue of Science,
examines how a defect in neuroligin genes may contribute to autism. Neuroligins are components of synapses, which connect individual neurons in the brain. The researchers found that the loss of neuroligins perturbs the formation of neuronal connections and results in an imbalance of neuronal function.
This imbalance provides an explanation for the neurodevelopmental defects in autistic children.