A Potential Breakthrough in Autism Treatment

bariacticAccording to a study that was recently published in Neuron, a mass of mutated genes in brain cells that were previously overlooked are connected to autism disorders. The findings, discovered by scientists at UCLA, can potentially lead to the development of drugs that specifically target the genes involved.

Dr. Kelsey Martin, professor of biological chemistry at the David Geffen School of Medicine at UCLA and lead investigator states, “Our discovery will shed new light on how genetic mutations lead to autism.” He continues, “Before we can develop an effective therapy to target a gene, we must first understand how the gene operates in the cell.”

Rbfox1, a gene that regulates how cells make proteins, was intensely studied in this investigation. These proteins help build and shape the body’s major tissues and organs, including the brain. Daniel Geschwind, Professor of neurology and psychiatry at UCLA and coauthor of the study, states, “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.”

This gene is critical for scientists to study, as previous studies have indicated that mutations in Rbfox1 are linked to increased risks of autism disorders. Dr. Martin teamed up with UCLA geneticist Douglas Black to better research Rbfox1 and its functions, using DNA-sequencing technology to reveal the identities of genes controlled by Rbfox1.

Black, who is a professor of microbiology, immunology and molecular genetics, states, “Our results turned up an exciting new set of genetic connections. We found that where Rbfox1 was located in the cell determined what genes it influenced.” The researchers found that Rbox1 controls more than 100 genes in the cytoplasm, as opposed to working primarily in the nucleus, as scientists had originally concluded. The genes controlled by Rbfox1 in a cell’s nucleus are completely different from those in the cell’s cytoplasm. Genes in the cytoplasm encode proteins critical to brain development, with mutations tied to risks of autism.

Dr. Martin states, “While some experts have hinted at the role of cytoplasmic gene control by Rbfox1 in autism risk, no one has systematically explored it in nerve cells before.” He continues, “Our study is the first to discover that dozens of autism risk genes have special functions in the cytoplasm and share common pathways in regulating the brain cells.” Moving forward, researchers will need to better understand how Rbfox1 controls the genes in the cytoplasm, leading to drug developments that can target these genes.

For more information, please visit:  http://newsroom.ucla.edu/releases/untapped-region-in-brain-cell-offers-goldmine-of-drug-targets-for-new-autism-treatments


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