UVA Medical Researchers Find "Genetic Mosaic" in Brain
Researchers at the University of Virginia School of Medicine have found what they call an "unexpected genetic mosaic" in the brain. The scientists say this discovery may help explain disorders largely thought to be linked to a single gene.
People typically think that every cell in your brain is made up of the same genetic code formed at birth. UVA research is disproving that belief and looking at what the changes they found could mean for the future of medicine.
“It just opens up whole new ways to think about genetics and especially neuropsychiatric disorders,” said Mike McConnell, associate professor of biochemistry and molecular genetics at UVA’s School of Medicine.
McConnell and the scientists in his lab are working to understand diversity in the brain.
“We've been trying for some time to find the gene that causes schizophrenia or the gene that causes autism, and what we've turned up is hundreds of genes that all have very small effects,” said McConnell.
The researchers take a person's skin cells and reprogram them to make an equivalent of a stem cell. This method produces what they call "genome in a dish."
“Now we can make those brains. This is really fantastic for especially difficult diseases like schizophrenia, autism, epilepsy even, where we don't want to take a piece of that brain but we want to figure out what's going on in there,” said McConnell.
They use a unique process called single-cell sequencing that allows them to study the genetic makeup of individual brain cells.
“We found that 40 percent of them actually - not only do they have changes but each neuron had different changes, so there's the whole mosaic then is in the brain among the neurons,” said McConnell.
McConnell says understanding the mosaic might be the key to unraveling complex genetics that have puzzled researchers for centuries.
“We really want to look at different disease states and try to understand if different types of mosaics are associated with different disease states because that might really give us a clue of which genes to really work on the hardest to try and treat those diseases,” said McConnell.
The findings to this research have been published online by the Journal Science.