Source:https://www.medicalnewstoday.com/articles/327296.php

Using a new type of genetic engineering tool called epigenome editing in mice, scientists have restored irregularities in the developing brain that arise from a gene mutation.

New research in mice suggests that gene editing could prevent brain developmental disorders.Epigenome editing is a way of altering the expression, or reading, of genes without altering their underlying DNA code. 

A team from Johns Hopkins University in Baltimore, MD, led the Nature Communications study that focuses on the protein C11orf46.

One of the study's corresponding authors is Dr. Atsushi Kamiya, who is an associate professor of psychiatry and behavioral sciences at Johns Hopkins University School of Medicine.

In humans, mutations in the section of DNA that contains the C11orf46 gene can lead to WAGR syndrome, a genetic condition that can cause intellectual disability and impair many systems of the body.

The researchers found that C11orf46 directs the development of the corpus callosum, which is the complex bundle of nerve fibers that connects the right and left sides of the brain.

If the corpus callosum does not form correctly, it can give rise to brain development disorders, such as autism, and the type of intellectual disability that can occur in WAGR syndrome.

Gene silencing

Another name for WAGR syndrome is chromosome 11p13 deletion syndrome because the mutations that cause it comprise deletions of DNA in a specific region of chromosome 11. The C11orf46 gene sits in this region.To study the effect of missing C11orf46 protein, the researchers silenced its coding gene in mice.Instead of deleting the gene directly, however, they reduced its expression using an epigenome editing tool.

With this tool, scientists can alter the chromatin packaging of DNA rather than the DNA code itself.This alteration makes it harder for a cell's DNA readers to read the protein's DNA code, with the result that the cell produces less of it.The team found that mice that made less C11orf46 protein failed to develop the corpus callosum correctly in their brains. The brain impairment is similar to that which occurs in WAGR syndrome.