Scientists from the University of California - Los Angeles (UCLA) have discovered that mutated genes from a region in brain cells can lead to autism.
The conclusion of the study has been recently published in Neuron. The discovery could help developing new drugs and therapies for the disorder. According to statistics reported by Science Daily, autism the affects in the United States alone one in 68 children.
The research team from UCLA focused on a gene called Rbfox1, with role in regulating how the cell makes proteins. Proteins help shape the tissues and organs in the body and they are linked to essential tasks in cells.
The study brings new understanding on how genetic mutations can cause autism, according to the principal investigator Dr. Kelsey Martin, interim dean and a professor of biological chemistry at the David Geffen School of Medicine at UCLA. He added that researchers need to first understand how these specific genes operate in the cells before they can develop an effective therapy to target these genes.
The coauthor of the study, Daniel Geschwind, professor of neurology and psychiatry at UCLA and Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, explains that molecular medicine is based on identifying a gene's function. He added that their team of researchers could find an entire new function of Rbfox1, a function that was overlooked by other scientists.
In order to better understand the function of Rbfox1, UCLA research team mixed a powerful DNA-sequencing technology with a cell biology approach. They were able to reveal the identities of the genes controlled by Rbfox1 and find a new set of genetic connections, according to David Black, a professor of microbiology, immunology and molecular genetics at UCLA. According to him, what genes are influenced depends on where Rbfox1 was located in the cell.
UCLA scientists have found that Rbfox1 also controls over 100 genes in the cytoplasm, most of them encoding critical proteins that have been tied to autism risk.
