A team of scientists at the University of California, Los Angeles (USA) has discovered that an overlooked (unexplored) region in brain cells harbors a goldmine of genes associated with autism . This finding would represent an ideal place for new drug targets as well as renewed therapies for the disease of autism.
“ Our discovery will shed new light on how genetic mutations lead to autism. Before we can develop an effective therapy to target a gene, we first have to understand how the gene works in the cell, ”says Kelsey Martin, leader of the study.
The scientists focused on the gene called Rbfox1, which regulates how the cell produces proteins, essential building blocks for the body’s tissues and organs, such as the brain , among other things, as it revealed that this particular gene had an entirely new function. that other scientists had overlooked.
Mixing a cell biology approach with powerful DNA sequencing technology, they discovered the identity of the genes controlled by Rbfox1: “ Our results presented an exciting new set of genetic connections . We have found that where Rbfox1 was in the cell determines which genes it has influenced ”, explains Douglas Black, co-author of the work.
That is, the Rbfox1 analysis showed that the gene also controls more than 100 genes in the cytoplasm and most of these genes encode proteins essential for brain development (and have been associated with the risk of autism) . Genes driven by Rbfox1 enriched brain development with vital proteins, and the risk of autism increases when something goes wrong in this function.
“ No one has systematically scanned nerve cells before. Our study is the first to discover that dozens of autism risk genes have special functions in the cytoplasm and share common pathways in the regulation of brain cells, ”Martin clarifies.
The study has been published in the journal Neuron.
