SHANK3 Plays Larger Role in ASD Than Assumed (Source: Spectrum News)

SHANK3 is a mutated gene that is linked to autism, and researchers are continuously discovering their structure and role in the disorder. A recent study found a new role that the neurons play.

The SHANK3 is meant to support synapses structure, which allow neuron communication. “Synaptopathy,” neuron signal defects, is what links the mutated gene to autism. The study focused on how the neurons without the gene don’t have correctly functioning ion channels in their outer membranes, which can translate to issues regulating the excitement of the neurons.

The lead study investigator was Thomas Südhof, professor of molecular and cellular physiology at Stanford University in California. He discussed how the study proved nothing is for certain in research.

“You can’t just assume that a gene that encodes a protein which is synaptic will necessarily cause a synaptic deficit, and only a synaptic deficit,” said Südhof.

The neurons with fewer synapses meant that it had weaker electrical messages, but this was resolved with a SHANK3 gene. This reassured the scientists that SHANK3 was needed for synapse function.

The study was done by creating human embryonic stem cells, which had copies of defective SHANK3 cells. Then they manipulated the stem cells into neurons by engineering them to express a specific gene. This resulted in a small amount of neuronal branches that retrieve signals at synapses, called dendrites, when compared to controls.

The team also measured the neurons excitability by examining the current flow in different ion channels, which are binded by the SHANK3 in cultured kidney cells. They also cause channel blocks with chemicals in control neurons that indicates SHANK3 loss. They concluded that without the SHANK3 gene, the HCN channels can’t function properly.

These conclusions support evidence from a 2013 study, which gave the researchers an idea that the SHANK3 had more pull in the neurons than influencing synapses.

For more information, visit the source for this blog post, Spectrum News.

Written by Nichole Caropolo

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