UCLA medical researchers make ground-breaking autism discovery

Scientists at UCLA in America have highlighted that an overlooked region of the brain contains a significant number of mutated genes that have been linked to autism.

The team involved with this particular study focused on a gene called Rbfox1, which acts as a regulator for how cells produce proteins that help to shape internal tissues in the body, including organs such as the brain.

Earlier studies have identified that mutations in Rbfox1 can lead to an individual having a higher risk of autism, but in this recent study the team used a cell biology approach to analysis, combined with powerful DNA-sequencing technology.

By doing so, the researchers were able to assess the various genes controlled by Rbfox1.

Professor Daniel Geschwind, a co-author of the study, said: “Identifying a gene’s function is critical for molecular medicine.

“My colleagues discovered that Rbfox1 has an entirely new function that other scientists had overlooked.”

The finding, which is being hailed as a significant breakthrough, relates to the fact that where Rbfox1 is located in a cell has an impact on which other genes it influences.

Following additional studies linked to this finding, the researchers found that genes targeted by RBfox1 in a cell’s cytoplasm were high in proteins that are crucial for brain development.

The risk of an individual having autism increases if these genes are affected.

Another study author added that: “Our study is the first to discover that dozens of autism risk genes reside in the cytoplasm and share common pathways in regulating the brain cells.”

It is believed that the team will carry out more work, based on their findings, to discover how Rbfox1 controls genes in the cytoplasm, meaning that an early drug treatment can be found to prevent autism.

More information about the study is available in the journal Neuron.

 

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